ACH
MCID: ACH004
MIFTS: 66

Achondroplasia (ACH)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 57 12 76 24 53 25 59 75 37 29 13 55 6 44 15 40 73
Ach 57 53 25 75
Achondroplastic Dwarfism 53 25 73
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 25
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

59
achondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Italy),1-9/100000 (Sweden),1-9/100000 (Spain),1-9/100000 (Denmark),1-9/100000 (United States),1-9/100000 (Latin America),1-9/100000 (Australia); Age of onset: Neonatal; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
autosomal dominant with complete penetrance
80% cases new mutations
99+% of the mutations are fgfr3, g380r
paternal age effect


HPO:

32
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is 100%; all individuals who have an fgfr3 heterozygous pathogenic variant associated with achondroplasia have the clinical manifestations of the disorder...

Classifications:



Summaries for Achondroplasia

NIH Rare Diseases : 53 Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain (hydrocephalus). Some people with achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by mutations in the FGFR3 gene. Inheritance is  autosomal dominant. Treatment may include medication with growth hormone, and surgery aimed to correct the spine, or bone problems, as well, as to reduce the pressure inside the brain in cases of hydrocephaly.Prognosis with achondroplasia is good except in cases of y spinal compression at the neck.

MalaCards based summary : Achondroplasia, also known as ach, is related to hypochondroplasia and spondyloepiphyseal dysplasia with congenital joint dislocations. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Natriuretic Agents and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are macrocephaly and obesity

OMIM : 57 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800)

UniProtKB/Swiss-Prot : 75 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.

Genetics Home Reference : 25 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

Disease Ontology : 12 An osteochondrodysplasia that results in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

Wikipedia : 76 Achondroplasia is a genetic disorder that results in dwarfism. In those with the condition, the arms and... more...

GeneReviews: NBK1152

Related Diseases for Achondroplasia

Diseases related to Achondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 136, show less)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 30.6 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
2 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 ACAN FGFR3
3 leri-weill dyschondrosteosis 30.2 FGFR3 SHOX
4 craniosynostosis 29.5 FGFR1 FGFR2 FGFR3
5 synostosis 29.5 FGFR1 FGFR2 FGFR3
6 crouzon syndrome 29.4 FGFR1 FGFR2 FGFR3
7 pfeiffer syndrome 29.1 FGFR1 FGFR2 FGFR3
8 bone disease 28.8 ACAN FGFR2 FGFR3 PTH1R
9 osteoarthritis 28.6 ACAN COMP SOX9
10 skeletal dysplasias 28.3 COMP FGFR3 NPPC PTH1R SOX9
11 thanatophoric dysplasia, type i 28.1 COMP FGFR1 FGFR2 FGFR3 PTH1R
12 achondroplasia, severe, with developmental delay and acanthosis nigricans 12.6
13 achondroplasia and severe combined immunodeficiency 12.2
14 achondroplasia and swiss type agammaglobulinemia 11.9
15 dwarfism 11.4
16 short-limb skeletal dysplasia with severe combined immunodeficiency 11.2
17 pseudoachondroplasia 11.2
18 rhizomelic chondrodysplasia punctata, type 1 11.0
19 chondrodysplasia punctata 2, x-linked dominant 10.9
20 x-linked chondrodysplasia punctata 10.9
21 atelosteogenesis, type i 10.9
22 boomerang dysplasia 10.9
23 hydrocephalus, nonsyndromic, autosomal recessive 1 10.9
24 mesomelia 10.9
25 acromesomelic dysplasia, maroteaux type 10.6 FGFR3 NPPC
26 metaphyseal chondrodysplasia, jansen type 10.4 FGFR3 PTH1R
27 hemifacial hyperplasia 10.4 FGFR2 FGFR3
28 pectus excavatum 10.3 ACAN FGFR3
29 luteoma 10.3 FGFR2 FGFR3
30 beare-stevenson cutis gyrata syndrome 10.3 FGFR2 FGFR3
31 aging 10.2
32 cervicitis 10.1
33 hypertropia 10.1 FGFR2 FGFR3
34 chondromyxoid fibroma 10.1 FGFR3 PTH1R SOX9
35 sleep apnea 10.1
36 sleep disorder 10.1
37 exophthalmos 10.1 FGFR2 FGFR3
38 osteochondrodysplasia 10.1 FGFR3 PTH1R SOX9
39 apnea, obstructive sleep 10.1
40 spinal stenosis 10.1
41 bladder urothelial carcinoma 10.1 FGFR1 FGFR3 MAP2K1
42 acanthosis nigricans 10.1
43 radioulnar synostosis 10.0 FGFR1 FGFR2
44 hydrocephalus 10.0
45 atelosteogenesis 10.0 COMP FGFR3
46 synovial chondromatosis 10.0 FGFR1 FGFR3 SOX9
47 down syndrome 10.0
48 47, xxy 10.0
49 cartilage disease 9.9 ACAN COMP
50 transient arthritis 9.9 ACAN COMP
51 bone deterioration disease 9.9 ACAN SOX9
52 pulmonary hypertension 9.9
53 antley-bixler syndrome 9.9 FGFR1 FGFR2
54 achondrogenesis, type ii 9.9 ACAN COMP
55 hypochondrogenesis 9.9 ACAN COMP
56 plagiocephaly 9.9 FGFR1 FGFR2 FGFR3
57 osteoglophonic dysplasia 9.8 FGFR1 FGFR2 FGFR3
58 osteopetrosis 9.8
59 spondyloepiphyseal dysplasia congenita 9.8
60 jackson-weiss syndrome 9.8 FGFR1 FGFR2 FGFR3
61 apert syndrome 9.8 FGFR1 FGFR2 FGFR3
62 muenke syndrome 9.8 FGFR1 FGFR2 FGFR3
63 saethre-chotzen syndrome 9.8 FGFR1 FGFR2 FGFR3
64 brittle bone disorder 9.8
65 body mass index quantitative trait locus 1 9.8
66 crouzon syndrome with acanthosis nigricans 9.8
67 achondrogenesis 9.8
68 lipomatosis 9.8
69 retinitis 9.8
70 pelvic lipomatosis 9.8
71 megalencephaly 9.8
72 osteochondroma 9.7 FGFR1 FGFR3
73 tooth agenesis 9.7 FGF3 FGFR1 FGFR2
74 lung squamous cell carcinoma 9.7 FGFR1 FGFR2 FGFR3
75 spondyloarthropathy 1 9.6
76 fundus albipunctatus 9.6
77 marfan syndrome 9.6
78 nail-patella syndrome 9.6
79 neurofibromatosis, type i 9.6
80 neurofibromatosis, type iv, of riccardi 9.6
81 pelvic organ prolapse 9.6
82 teeth, supernumerary 9.6
83 tetralogy of fallot 9.6
84 thanatophoric dysplasia, type ii 9.6
85 trigeminal neuralgia 9.6
86 renal hypodysplasia/aplasia 1 9.6
87 neuroblastoma 9.6
88 uruguay faciocardiomusculoskeletal syndrome 9.6
89 fragile x syndrome 9.6
90 muscular dystrophy, duchenne type 9.6
91 polydactyly 9.6
92 choanal atresia, posterior 9.6
93 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
94 renal hypodysplasia/aplasia 3 9.6
95 keratoconus 9.6
96 leukemia 9.6
97 spinal cord injury 9.6
98 thrombocytopenia 9.6
99 scoliosis 9.6
100 mucositis 9.6
101 tethered spinal cord syndrome 9.6
102 respiratory failure 9.6
103 arachnoiditis 9.6
104 duane retraction syndrome 9.6
105 multiple epiphyseal dysplasia 9.6
106 renal osteodystrophy 9.6
107 biliary atresia 9.6
108 gonadal dysgenesis 9.6
109 papilledema 9.6
110 ventricular septal defect 9.6
111 spondylosis 9.6
112 pharyngitis 9.6
113 auditory system disease 9.6
114 syringomyelia 9.6
115 periodontal disease 9.6
116 middle ear disease 9.6
117 spondylitis 9.6
118 periodontitis 9.6
119 polyhydramnios 9.6
120 fundus dystrophy 9.6
121 myeloid leukemia 9.6
122 chorioretinitis 9.6
123 muscular dystrophy 9.6
124 type i 9.6
125 arachnoid cysts 9.6
126 chiari malformation 9.6
127 isolated duane retraction syndrome 9.6
128 hemifacial spasm 9.6
129 hypotonia 9.6
130 infantile hypotonia 9.6
131 chondroblastoma 9.6 FGFR1 FGFR3 PTH1R SOX9
132 lacrimoauriculodentodigital syndrome 9.5 FGF3 FGFR1 FGFR2 FGFR3
133 cleft palate, isolated 9.4 FGFR1 FGFR2 SOX9
134 osteochondritis dissecans 9.4 ACAN COMP
135 adenocarcinoma 9.4 FGFR1 FGFR2 FGFR3 MAP2K1
136 bone development disease 7.8 COMP FGFR1 FGFR2 FGFR3 SHOX SOX9

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing
megalencephaly

Respiratory Airways:
upper airway obstruction

Skeletal:
generalized joint laxity

Growth Height:
short-limb dwarfism identifiable at birth
mean male adult height, 131 cm
mean female height, 124 cm

Head And Neck Ears:
recurrent otitis media in infancy and childhood
conductive hearing loss

Skeletal Skull:
jugular bulb dehiscence (in some patients)
foramen magnum stenosis

Skeletal Pelvis:
dysplastic ilium
narrow sacroiliac groove
flat rooted acetabulae

Skeletal Hands:
brachydactyly
trident hand

Neurologic Central Nervous System:
brain stem compression
hydrocephalus, occasional
hypotonia in infancy and early childhood
delayed motor development

Skeletal Limbs:
short femoral neck
bowing of legs
rhizomelic shortening
metaphyseal flaring
limited elbow and hip extension

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
low nasal bridge

Skeletal Spine:
lumbar kyphosis in infancy
exaggerated lumbar lordosis during childhood and adulthood
congenital spinal stenosis due to short pedicles, especially lumbar
progressive interpediculate narrowing in lumbar spine


Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

59 32 (showing 61, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
6 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
7 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
8 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
9 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
10 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
11 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
12 dental malocclusion 59 32 frequent (33%) Frequent (79-30%) HP:0000689
13 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
14 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
15 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
16 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
17 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
18 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
21 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
22 diaphyseal thickening 59 32 frequent (33%) Frequent (79-30%) HP:0005019
23 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
24 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
25 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
26 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
27 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
28 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
29 genu varum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002970
30 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
31 spinal canal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003416
32 obstructive sleep apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002870
33 narrow sacroiliac notch 59 32 frequent (33%) Frequent (79-30%) HP:0008803
34 neonatal short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008921
35 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
36 long thorax 59 32 frequent (33%) Frequent (79-30%) HP:0100818
37 malar flattening 32 HP:0000272
38 megalencephaly 32 HP:0001355
39 neurological speech impairment 59 Occasional (29-5%)
40 bowing of the long bones 59 Frequent (79-30%)
41 death in infancy 59 Occasional (29-5%)
42 recurrent otitis media 32 HP:0000403
43 apnea 59 Frequent (79-30%)
44 brachydactyly 32 HP:0001156
45 abnormality of the ilium 59 Frequent (79-30%)
46 disproportionate short-limb short stature 59 Very frequent (99-80%)
47 abnormality of the elbow 59 Frequent (79-30%)
48 motor delay 32 HP:0001270
49 upper airway obstruction 32 HP:0002781
50 lumbar hyperlordosis 32 HP:0002938
51 limited elbow extension 32 HP:0001377
52 brain stem compression 32 HP:0002512
53 generalized joint laxity 32 HP:0002761
54 short femoral neck 32 HP:0100864
55 flared metaphysis 32 HP:0003015
56 infantile muscular hypotonia 32 HP:0008947
57 lumbar kyphosis in infancy 32 HP:0008414
58 trident hand 32 HP:0004060
59 small foramen magnum 32 HP:0002677
60 limited hip extension 32 HP:0003093
61 spinal stenosis with reduced interpedicular distance 32 HP:0005733

MGI Mouse Phenotypes related to Achondroplasia:

46 (showing 11, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 COMP
2 craniofacial MP:0005382 10.04 FGFR3 FGFR1 MAP2K1 FGFR2 NPPC PTH1R
3 limbs/digits/tail MP:0005371 9.97 FGFR1 FGFR2 NPPC COMP FGF3 FGFR3
4 digestive/alimentary MP:0005381 9.95 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R
5 embryo MP:0005380 9.93 FGF3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R
6 nervous system MP:0003631 9.92 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
7 hearing/vestibular/ear MP:0005377 9.88 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
8 normal MP:0002873 9.8 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 COMP
9 reproductive system MP:0005389 9.7 FGF3 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9
10 skeleton MP:0005390 9.61 FGFR3 FGFR1 MAP2K1 FGFR2 NPPC COMP
11 vision/eye MP:0005391 9.1 FGFR3 FGFR1 MAP2K1 FGFR2 SOX9 PTH1R

Drugs & Therapeutics for Achondroplasia

Drugs for Achondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 3,Phase 2
2 Natriuretic Peptide, C-Type Phase 3,Phase 2

Interventional clinical trials:

(showing 14, show less)
# Name Status NCT ID Phase Drugs
1 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
2 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
3 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
4 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Active, not recruiting NCT02724228 Phase 2 BMN 111
5 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
6 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
7 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
8 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
9 Special Survey for Long Term Application Completed NCT01516229 somatropin
10 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418 Not Applicable
11 Study of Skeletal Disorders and Short Stature Completed NCT00001754
12 Lifetime Impact of Achondroplasia Study in Europe-LIAISE Recruiting NCT03449368
13 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
14 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095

Search NIH Clinical Center for Achondroplasia

Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

# Genetic test Affiliating Genes
1 Achondroplasia 29 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

41
Bone, Brain, Spinal Cord, Lung, Testes, Bone Marrow, Occipital Lobe

The Foundational Model of Anatomy Ontology organs/tissues related to Achondroplasia:

19
Long Bone

Publications for Achondroplasia

Articles related to Achondroplasia:

(showing 673, show less)
# Title Authors Year
1
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine? ( 29872110 )
2018
2
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. ( 29424094 )
2018
3
Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report. ( 29884976 )
2018
4
The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. ( 29419717 )
2018
5
Piloting and psychometric properties of a patient-reported outcome instrument for young people with achondroplasia based on the International Classification of Functioning Disability and Health: the Achondroplasia Personal Life Experience Scale (APLES). ( 29516753 )
2018
6
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
7
Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging. ( 29323153 )
2018
8
Changes in the range of motion of the lower limb joints during extensive tibial lengthening in achondroplasia. ( 29878976 )
2018
9
The Oxygen Consumption and Metabolic Cost of Walking and Running in Adults With Achondroplasia. ( 29720948 )
2018
10
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
11
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. ( 29040558 )
2018
12
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. ( 29380944 )
2018
13
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. ( 29959505 )
2018
14
Natural history of 39 patients with Achondroplasia. ( 29972438 )
2018
15
Growth velocity and biological variables during puberty in achondroplasia. ( 29466240 )
2018
16
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. ( 29652901 )
2018
17
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095 )
2018
18
Achondroplasia: Etiology, Clinical Presentation, and Management. ( 29185944 )
2017
19
Final adult height in long-term growth hormone-treated achondroplasia patients. ( 28501952 )
2017
20
Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report. ( 28827054 )
2017
21
Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. ( 29070618 )
2017
22
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. ( 28374958 )
2017
23
Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia. ( 29108917 )
2017
24
Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. ( 29079071 )
2017
25
Bilateral simultaneous total hip replacement in Achondroplasia. ( 28878547 )
2017
26
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
27
A case of multivessel PTCA in achondroplasia patient. ( 29622960 )
2017
28
Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient. ( 28893057 )
2017
29
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
30
Sinus pericranii in achondroplasia: a case report and review of the literature. ( 28872565 )
2017
31
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. ( 28819680 )
2017
32
Successful Delivery in a Woman With Achondroplasia: A Case Report. ( 29034653 )
2017
33
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. ( 28785080 )
2017
34
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 28911208 )
2017
35
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
36
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. ( 28364903 )
2017
37
Arthroscopic knee anatomy in young achondroplasia patients. ( 28828058 )
2017
38
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. ( 27767902 )
2017
39
Growth charts for Australian children with achondroplasia. ( 28599087 )
2017
40
Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report. ( 29245270 )
2017
41
Two-staged Bilateral, Femoral Alignment Osteotomy with Concomitant Total Knee Arthroplasty in an Achondroplasia Patient - A Case Report. ( 28819598 )
2017
42
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2017
43
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. ( 28679403 )
2017
44
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. ( 28210519 )
2017
45
Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report. ( 28702065 )
2017
46
Myxoedema in a patient with achondroplasia in rural area of Guatemala. ( 28280081 )
2017
47
Sleep-disordered breathing and its management in children with achondroplasia. ( 28239978 )
2017
48
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
49
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. ( 28107267 )
2017
50
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
51
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28693116 )
2017
52
Current Care and Investigational Therapies in Achondroplasia. ( 28224446 )
2017
53
PTH 1-34 Ameliorates the Osteopenia and Delayed Healing of Stabilized Tibia Fracture in Mice with Achondroplasia Resulting from Gain-Of-Function Mutation of FGFR3. ( 29104492 )
2017
54
Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine. ( 29292874 )
2017
55
Sleep disordered breathing in children with achondroplasia. ( 27830579 )
2017
56
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. ( 28520086 )
2017
57
Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia. ( 28502457 )
2017
58
Growth Modulation in Achondroplasia. ( 28719547 )
2017
59
Specific force of the vastus lateralis in adults with Achondroplasia. ( 29146686 )
2017
60
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. ( 28889181 )
2017
61
Avascular Retinal Findings in a Child With Achondroplasia. ( 28297043 )
2017
62
Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. ( 28644737 )
2017
63
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. ( 27260401 )
2016
64
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. ( 27633930 )
2016
65
Cervicomedullary junction compression in infant with achondroplasia. ( 26944588 )
2016
66
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
67
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. ( 27919255 )
2016
68
Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. ( 27276636 )
2016
69
Achondroplasia. ( 27387628 )
2016
70
The neuropsychological function of children with achondroplasia. ( 27605460 )
2016
71
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia. ( 27059327 )
2016
72
Response: &amp;quot;Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy&amp;quot; and &amp;quot;is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?&amp;quot;. ( 26754314 )
2016
73
Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia. ( 27147792 )
2016
74
An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia - development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES). ( 27636099 )
2016
75
Limb lengthening in achondroplasia. ( 27512222 )
2016
76
Discoid Meniscus Associated With Achondroplasia. ( 27135452 )
2016
77
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature. ( 27709641 )
2016
78
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. ( 27288205 )
2016
79
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. ( 27140867 )
2016
80
Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. ( 27636912 )
2016
81
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 27506979 )
2016
82
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. ( 26684019 )
2016
83
Achondroplasia: Development, Pathogenesis, and Therapy. ( 27987249 )
2016
84
A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. ( 27836589 )
2016
85
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. ( 26754866 )
2016
86
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. ( 27355624 )
2016
87
Cognitive phenotype and language skills in children with achondroplasia. ( 26899672 )
2016
88
Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia. ( 27927547 )
2016
89
Letter to the editor: Response to two recent articles regarding achondroplasia. ( 26753848 )
2016
90
Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles. ( 27040652 )
2016
91
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. ( 27651125 )
2016
92
The natural history of thoracolumbar kyphosis in achondroplasia. ( 28005181 )
2016
93
Achondroplasia: Really rhizomelic? ( 27257098 )
2016
94
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. ( 27370225 )
2016
95
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. ( 27239358 )
2016
96
Ventricular septal defect closure in a patient with achondroplasia. ( 27323297 )
2016
97
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. ( 26850935 )
2016
98
Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism. ( 25415482 )
2015
99
Achondroplasia and Macular Coloboma. ( 26692730 )
2015
100
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. ( 26136890 )
2015
101
Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome. ( 25789188 )
2015
102
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. ( 25456072 )
2015
103
Widening of the femoral diaphysis-metaphysis angle at 20-24 weeks: a marker for the detection of achondroplasia prior to the onset of skeletal shortening. ( 26450406 )
2015
104
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. ( 26770560 )
2015
105
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. ( 25728633 )
2015
106
Achondroplasia and multiple-suture craniosynostosis. ( 25502720 )
2015
107
[Anesthetic Management for Cervicomedullary Decompression in a Patient with Achondroplasia--A Case Report]. ( 26790327 )
2015
108
Achondroplasia: Current Options and Future Perspective. ( 26182483 )
2015
109
Advances in treatment of achondroplasia and osteoarthritis. ( 26443596 )
2015
110
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. ( 26041006 )
2015
111
Surgical treatment for cervicomedullary compression among infants with achondroplasia. ( 25686888 )
2015
112
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
113
Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? ( 26394798 )
2015
114
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. ( 26394886 )
2015
115
FGFR3/Fibroblast Growth Factor Receptor 3 Inhibits Autophagy through Decreasing the ATG12-ATG5 Conjugate, Leading to the Delay of Cartilage Development in Achondroplasia. ( 26491898 )
2015
116
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? ( 26530664 )
2015
117
Low Prevalence of Anterior and Posterior Cruciate Ligament Injuries in Patients With Achondroplasia. ( 26469688 )
2015
118
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? ( 25691418 )
2015
119
Limb Lengthening in Patients with Achondroplasia. ( 26446651 )
2015
120
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. ( 26126848 )
2015
121
The Tibial Slope in Patients With Achondroplasia: Its Characterization and Possible Role in Genu Recurvatum Development. ( 26114241 )
2015
122
Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. ( 25829758 )
2015
123
Airway malacia in children with achondroplasia. ( 24311312 )
2014
124
Achondroplasia and brain stem dysfunction. ( 25040780 )
2014
125
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. ( 25649344 )
2014
126
Optimal management of complications associated with achondroplasia. ( 25053890 )
2014
127
Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. ( 25453127 )
2014
128
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. ( 24971605 )
2014
129
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. ( 24352917 )
2014
130
Recurrent acute life-threatening events in a child with achondroplasia. ( 25368135 )
2014
131
Congenital lumbar spinal stenosis with ossification of the ligamentum flavum in achondroplasia: a case report. ( 24597928 )
2014
132
Acute paraparesis as consequence of lumbar bending in achondroplasia. ( 23842926 )
2014
133
Diffusion tensor imaging of the brainstem in children with achondroplasia. ( 24825324 )
2014
134
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
135
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. ( 24419316 )
2014
136
Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. ( 25249421 )
2014
137
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
138
Neurologic manifestations of achondroplasia. ( 24365319 )
2014
139
Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. ( 25432442 )
2014
140
Achondroplasia: anaesthetic challenges for caesarean section. ( 24768304 )
2014
141
Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. ( 24616001 )
2014
142
Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. ( 24623391 )
2014
143
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction. ( 25405196 )
2014
144
Low bone density in achondroplasia. ( 24664201 )
2014
145
Mortality in babies with achondroplasia: revisited. ( 24677650 )
2014
146
Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses. ( 25385298 )
2014
147
Anaesthesia and orphan disease: a 26-year-old patient with achondroplasia. ( 24161935 )
2013
148
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association. ( 23949953 )
2013
149
Increased sacral uptake on a bone scan with SPECT/CT in a patient with achondroplasia: normal or abnormal? ( 23868929 )
2013
150
Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia. ( 24324705 )
2013
151
Achondroplasia with oligodontia: Report of a rare case. ( 24574672 )
2013
152
Intraoperative computed tomography for cervicomedullary decompression of foramen magnum stenosis in achondroplasia: two case reports. ( 24140778 )
2013
153
How reliable are standard radiographic measures of the foot and ankle in children with achondroplasia? ( 23609814 )
2013
154
Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. ( 24048522 )
2013
155
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
156
Ultrasound-guided combined spinal-epidural anaesthesia for elective caesarean section in a patient with achondroplasia. ( 23473550 )
2013
157
A rare case of percutaneous coronary intervention in achondroplasia. ( 23735369 )
2013
158
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. ( 23740942 )
2013
159
The effect of height, weight and head circumference on gross motor development in achondroplasia. ( 23336715 )
2013
160
Bilateral ossiculoplasty in 1 case of achondroplasia. ( 24653923 )
2013
161
Respiratory difficulties and breathing disorders in achondroplasia. ( 23523391 )
2013
162
Height correlations between parents and offspring in achondroplasia population. ( 23322679 )
2013
163
Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism. ( 23519511 )
2013
164
Sagittal spinopelvic parameters in children with achondroplasia: identification of 2 distinct groups. ( 22540171 )
2012
165
Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation. ( 22529939 )
2012
166
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. ( 23200862 )
2012
167
Achondroplasia among ancient populations of mesoamerica and South America: Iconographic and Archaeological Evidence. ( 24893194 )
2012
168
Development in children with achondroplasia: a prospective clinical cohort study. ( 22409389 )
2012
169
Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. ( 22208325 )
2012
170
Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life. ( 21785895 )
2012
171
FGFR3 targeting strategies for achondroplasia. ( 22559284 )
2012
172
Achondroplasia associated with bilateral keratoconus. ( 23259098 )
2012
173
Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. ( 22219260 )
2012
174
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
175
Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. ( 22112021 )
2012
176
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. ( 22442656 )
2012
177
Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. ( 23056398 )
2012
178
Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia. ( 22434475 )
2012
179
Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity. ( 22489887 )
2012
180
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. ( 22112170 )
2012
181
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. ( 22747519 )
2012
182
Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. ( 22638916 )
2012
183
Clinical management of achondroplasia. ( 21460402 )
2012
184
Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. ( 22724572 )
2012
185
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 22339077 )
2012
186
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. ( 22935513 )
2012
187
Helping parents of children with monogenetic disorders understand developmental trajectories: lessons from achondroplasia. ( 22409722 )
2012
188
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
189
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
190
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. ( 22711495 )
2012
191
Achondroplasia and periodontal disease. ( 22628982 )
2012
192
Safety of spinal anesthesia in a patient with achondroplasia for cesarean section. ( 21375478 )
2011
193
Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function. ( 20739914 )
2011
194
Achondroplasia in female twins: surgical indications. ( 21088624 )
2011
195
Personalized medicine and the importance of measuring functioning and participation over time: lessons from achondroplasia. ( 21838817 )
2011
196
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
197
Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report. ( 20839967 )
2011
198
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. ( 21225355 )
2011
199
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. ( 21324899 )
2011
200
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. ( 20963478 )
2011
201
Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia - A prospective study. ( 21221226 )
2011
202
Analysis of sagittal spinopelvic parameters in achondroplasia. ( 21358483 )
2011
203
The role of arthrography in selecting an osteotomy for the correction of genu varum in pediatric patients with achondroplasia. ( 20948449 )
2011
204
New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. ( 21105021 )
2011
205
Functional performance in young Australian children with achondroplasia. ( 21838822 )
2011
206
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. ( 20938683 )
2011
207
Achondroplasia with synostosis of multiple sutures. ( 21739570 )
2011
208
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
209
Surgical decompression for lumbar stenosis in pediatric achondroplasia. ( 20574261 )
2010
210
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. ( 20673820 )
2010
211
A case of chorioretinal coloboma in a patient with achondroplasia. ( 21052511 )
2010
212
Achondroplasia: pathogenesis and implications for future treatment. ( 20601886 )
2010
213
Physical basis behind achondroplasia, the most common form of human dwarfism. ( 20624921 )
2010
214
Developmental milestones in infants and young Australasian children with achondroplasia. ( 20081435 )
2010
215
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. ( 20034074 )
2010
216
Analysis of callus pattern of tibia lengthening in achondroplasia and a novel method of regeneration assessment using pixel values. ( 19418051 )
2010
217
Anaesthetic challenges associated with achondroplasia: a case report. ( 21243927 )
2010
218
Intraoperative airway obstruction related to tracheostomy tube malposition in a patient with achondroplasia and Jeune's syndrome. ( 20803866 )
2010
219
Usefulness of phase contrast cine mode magnetic resonance imaging for surgical decision making in patients with hydrocephalus combined with achondroplasia. Case report. ( 21206191 )
2010
220
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
221
Surgical management of pelvic organ prolapse in a woman with achondroplasia. ( 20664444 )
2010
222
Achondroplasia: Craniofacial manifestations and considerations in dental management. ( 24151409 )
2010
223
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. ( 20357663 )
2010
224
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. ( 19572129 )
2010
225
Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. ( 20809726 )
2010
226
Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association. ( 20222028 )
2010
227
Bone: FGFR3 mutation delays bone age in achondroplasia. ( 21038504 )
2010
228
Coronary artery surgery in a man with achondroplasia: a case report. ( 21034450 )
2010
229
In brief: Achondroplasia. ( 19255125 )
2009
230
Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. ( 19949126 )
2009
231
Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. ( 19608200 )
2009
232
Molecular studies of achondroplasia. ( 19838370 )
2009
233
Neurosurgical implications of achondroplasia. ( 19795959 )
2009
234
Editorial. Achondroplasia. ( 19795958 )
2009
235
Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis. ( 19330302 )
2009
236
Achondroplasia: manifestations and treatment. ( 19307672 )
2009
237
Deceleration in maturation of bone during adolescent age in achondroplasia--a retrospective study using RUS scoring system. ( 18629458 )
2009
238
Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. ( 19770611 )
2009
239
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. ( 19622626 )
2009
240
Prenatal diagnosis of achondroplasia: new specific signs. ( 19399756 )
2009
241
[Updated treatment of achondroplasia]. ( 19252254 )
2009
242
Lumbar fusion in achondroplasia: does fusion to the sacrum affect function? ( 19568020 )
2009
243
Achondroplasia associated with metabolic syndrome: patient report. ( 19012636 )
2008
244
Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis. ( 18259829 )
2008
245
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. ( 18698630 )
2008
246
Patellar dislocation in achondroplasia. ( 18043378 )
2008
247
Achondroplasia. ( 18328977 )
2008
248
Down syndrome, achondroplasia and tetralogy of Fallot. ( 18196933 )
2008
249
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 18199430 )
2008
250
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. ( 18266238 )
2008
251
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. ( 18076102 )
2008
252
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. ( 17683901 )
2008
253
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
254
Rates of perioperative complications associated with laminectomies in patients with achondroplasia. ( 18245588 )
2008
255
Achondroplasia. ( 18590403 )
2008
256
Os odontoideum in achondroplasia: a case report. ( 18510168 )
2008
257
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. ( 18439482 )
2008
258
Achondroplasia associated with gonadal dysgenesis. ( 18534146 )
2008
259
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia. ( 18597963 )
2008
260
[Prenatal diagnosis of achondroplasia]. ( 18683143 )
2008
261
Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report. ( 18694487 )
2008
262
Pulmonary hypertension in an infant with achondroplasia. ( 18552519 )
2008
263
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. ( 17706214 )
2008
264
Successful polar body-based preimplantation genetic diagnosis for achondroplasia. ( 18284886 )
2008
265
Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. ( 18689372 )
2008
266
Ultrasound hip evaluation in achondroplasia. ( 18520278 )
2008
267
Achondroplasia: from genotype to phenotype. ( 17950653 )
2008
268
Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. ( 18671620 )
2008
269
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. ( 18485666 )
2008
270
Early presentation of spinal stenosis in achondroplasia. ( 17314632 )
2007
271
Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. Case report and review of the literature. ( 18459888 )
2007
272
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. ( 17154237 )
2007
273
Weight for age charts for children with achondroplasia. ( 17764078 )
2007
274
Laminectomies and achondroplasia: does body mass index influence surgical outcomes? ( 17431909 )
2007
275
Achondroplasia and enchondromatosis: report of three boys. ( 16763840 )
2007
276
Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. ( 17184438 )
2007
277
Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia. ( 17634732 )
2007
278
Achondroplasia. ( 17630040 )
2007
279
PTH has the potential to rescue disturbed bone growth in achondroplasia. ( 17466614 )
2007
280
Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia. ( 17436917 )
2007
281
Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. ( 17717461 )
2007
282
Thoracic and lumbar pedicle morphometry in achondroplasia. ( 16957649 )
2007
283
Mortality in achondroplasia study: a 42-year follow-up. ( 17879967 )
2007
284
Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias. ( 18061568 )
2007
285
Unsuccessful lumbar puncture in a paediatric patient with achondroplasia. ( 17933169 )
2007
286
Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia. ( 17624273 )
2007
287
Advances in understanding etiology of achondroplasia and review of management. ( 17224659 )
2007
288
Spinal stenosis surgery in pediatric patients with achondroplasia. ( 17566204 )
2007
289
Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. ( 17188608 )
2007
290
Development of genu varum in achondroplasia: relation to fibular overgrowth. ( 17259417 )
2007
291
Locking of the metacarpophalangeal joint as a result of the shape of the metacarpal head in achondroplasia. ( 17950229 )
2007
292
Otolaryngologic manifestations of achondroplasia. ( 17372080 )
2007
293
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
294
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. ( 18154022 )
2007
295
Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. ( 16406083 )
2006
296
The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature. ( 16970043 )
2006
297
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
298
Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia. ( 16924200 )
2006
299
Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. ( 16572633 )
2006
300
Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. ( 17021417 )
2006
301
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. ( 16463380 )
2006
302
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association. ( 16475234 )
2006
303
Analysis of lower extremity alignment in achondroplasia: interobserver reliability and intraobserver reproducibility. ( 16439907 )
2006
304
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
305
[Fibroblast growth factor receptor and achondroplasia]. ( 17079857 )
2006
306
Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis--a case report. ( 16819698 )
2006
307
Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. ( 16632156 )
2006
308
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies. ( 16874841 )
2006
309
MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal. ( 16943471 )
2006
310
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. ( 16434832 )
2006
311
Rotational profile of the lower extremity in achondroplasia: computed tomographic examination of 25 patients. ( 16944139 )
2006
312
A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea. ( 16670917 )
2006
313
Genu varum in achondroplasia. ( 16670552 )
2006
314
Bifocal tibial corrective osteotomy with lengthening in achondroplasia: an analysis of results and complications. ( 17065948 )
2006
315
Abnormal oral mucosal light reflectance in achondroplasia. ( 16731394 )
2006
316
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. ( 16634636 )
2006
317
Recent milestones in achondroplasia research. ( 16353253 )
2006
318
The sagging rope sign in achondroplasia--different from Perthes' disease. ( 16775711 )
2006
319
Dynamic lower extremity alignment in children with achondroplasia. ( 16791073 )
2006
320
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. ( 16411219 )
2006
321
Orthodontic management of achondroplasia. ( 16909171 )
2006
322
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. ( 16950849 )
2006
323
An unusual presentation of achondroplasia. Case report. ( 16370285 )
2005
324
The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia. ( 16238080 )
2005
325
Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section. ( 15795154 )
2005
326
Surgical correction of bowlegs in achondroplasia. ( 15931026 )
2005
327
Orthodontic management of achondroplasia in South Africa. ( 16201001 )
2005
328
Sagging rope sign in achondroplasia is different from Perthes disease. ( 16294124 )
2005
329
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
330
Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. ( 16398464 )
2005
331
Correction of anterior open bite in a case of achondroplasia. ( 16761710 )
2005
332
First trimester increased nuchal translucency associated with fetal achondroplasia. ( 15838748 )
2005
333
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. ( 15763281 )
2005
334
Health supervision for children with achondroplasia. ( 16140722 )
2005
335
Disappearance of hemifacial spasm after ventriculoperitoneal shunting in a patient with achondroplasia--case report. ( 15722610 )
2005
336
A simple and rapid quantitative method of detection of the common achondroplasia mutation: analysis in mismatch repair deficient cells. ( 16161636 )
2005
337
Multiplier method for prediction of adult height in patients with achondroplasia. ( 15958911 )
2005
338
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. ( 16299871 )
2005
339
Do parents and grandparents of patients with achondroplasia have a higher cancer risk? ( 15372518 )
2004
340
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. ( 14702637 )
2004
341
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. ( 14871928 )
2004
342
Spinal fusion for kyphosis in achondroplasia. ( 15308905 )
2004
343
Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. ( 15371713 )
2004
344
PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations. ( 15254256 )
2004
345
Management of disabilities associated with achondroplasia. ( 14767713 )
2004
346
Prenatal diagnosis of achondroplasia. ( 15284703 )
2004
347
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. ( 15517832 )
2004
348
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
349
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. ( 14699054 )
2004
350
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report. ( 15565648 )
2004
351
Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. ( 15487008 )
2004
352
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. ( 15221641 )
2004
353
Oral findings in a typical case of achondroplasia. ( 12870378 )
2003
354
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. ( 14558035 )
2003
355
Anaesthetic management of a patient with achondroplasia. ( 12846715 )
2003
356
Achondroplasia and enchondromatosis in a female child. ( 12774176 )
2003
357
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. ( 15022403 )
2003
358
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
359
Detection of achondroplasia G380R mutation from PCR amplicons by using inosine modified carbon electrodes based on electrochemical DNA chip technology. ( 14500035 )
2003
360
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. ( 12921294 )
2003
361
Living with achondroplasia in an average-sized world: an assessment of quality of life. ( 12884421 )
2003
362
Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. ( 12615816 )
2003
363
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. ( 12816345 )
2003
364
Thoracolumbar spinal deformity in achondroplasia. ( 15766221 )
2003
365
[Diagnosing achondroplasia by single cell nested-PCR]. ( 12778450 )
2003
366
Correction of lumbosacral hyperlordosis in achondroplasia. ( 12966299 )
2003
367
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003
368
Molecular basis for the treatment of achondroplasia. ( 14671399 )
2003
369
[The possible novel treatment of achondroplasia, C-type natriuretic peptide (CNP)]. ( 15775246 )
2003
370
Living with achondroplasia: attitudes toward population screening and correlation with quality of life. ( 14663838 )
2003
371
Achondroplasia: 3D-CT evaluation of the cervical spine. ( 15457746 )
2002
372
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. ( 12424440 )
2002
373
Observations on the cause of bowlegs in achondroplasia. ( 11744865 )
2002
374
Surgical treatment of lumbar stenosis in achondroplasia. ( 11990837 )
2002
375
Polyhydramnios: a predictor of severe growth impairment in achondroplasia. ( 12183727 )
2002
376
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. ( 12506285 )
2002
377
Issues surrounding prenatal genetic testing for achondroplasia. ( 12378581 )
2002
378
[Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients]. ( 12048679 )
2002
379
Achondroplasia. ( 12147902 )
2002
380
Another condition--not achondroplasia--masquerading in a recent textbook. ( 12269255 )
2002
381
Deformities of the elbow in achondroplasia. ( 12188484 )
2002
382
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. ( 12397172 )
2002
383
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
384
Bilateral humeral lengthening in achondroplasia. ( 11603677 )
2001
385
[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. ( 11414167 )
2001
386
Skeletal development of achondroplasia: analysis of genotyped patients. ( 11472579 )
2001
387
Deformation across the zone of callotasis during loading. radiostereometric analysis in a patient with achondroplasia. ( 11347700 )
2001
388
[Neurosurgical aspects in achondroplasia: evaluation and treatment]. ( 11759376 )
2001
389
A Ser(365)--&amp;gt;Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. ( 11181569 )
2001
390
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
391
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. ( 11426459 )
2001
392
Trigeminal neuralgia associated with achondroplasia. Case report with literature review. ( 11731870 )
2001
393
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. ( 11489233 )
2001
394
Clinical and molecular characteristics of Thai patients with achondroplasia. ( 11556601 )
2001
395
Facial palsy and achondroplasia: a rare association. ( 11506333 )
2001
396
Severe pulmonary hypertension in an infant with achondroplasia. ( 11589938 )
2001
397
The neurological complications of achondroplasia. ( 10761826 )
2000
398
Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells. ( 10646125 )
2000
399
Achondroplasia and nail-patella syndrome: the compound phenotype. ( 10978372 )
2000
400
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. ( 10979354 )
2000
401
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. ( 10696568 )
2000
402
Isolated subaxial cervical spine stenosis in achondroplasia. ( 11024249 )
2000
403
[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. ( 10932008 )
2000
404
Perioperative intracranial hemorrhage in achondroplasia: a case report. ( 10905569 )
2000
405
Germline and somatic mosaicism in achondroplasia. ( 11186939 )
2000
406
Growth hormone therapy in achondroplasia. ( 10971105 )
2000
407
An uncommon G375C substitution in a newborn with achondroplasia. ( 10893668 )
2000
408
The use of gated cine phase contrast and MR venography in achondroplasia. ( 11048631 )
2000
409
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. ( 10759489 )
2000
410
Reoperation for spinal restenosis in achondroplasia. ( 10780694 )
2000
411
Recurrence risk for sibs of children with &amp;quot;sporadic&amp;quot; achondroplasia. ( 10678665 )
2000
412
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. ( 10881785 )
2000
413
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. ( 10890199 )
2000
414
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. ( 11059551 )
2000
415
Effects of lower-leg lengthening on bone mineral density and soft tissue composition of legs in a patient with achondroplasia. ( 11052467 )
2000
416
[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. ( 11057021 )
2000
417
Achondroplasia with the FGFR3 1138g--&amp;gt;a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. ( 11186940 )
2000
418
Treatment of achondroplasia with growth hormone: six years of experience. ( 10509364 )
1999
419
Molecular defects in achondroplasia and the effects of growth hormone treatment. ( 10102070 )
1999
420
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population]. ( 10207844 )
1999
421
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. ( 10360393 )
1999
422
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. ( 9949360 )
1999
423
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. ( 10200283 )
1999
424
Achondroplasia-hypochondroplasia complex in a newborn infant. ( 10360392 )
1999
425
Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. ( 10206234 )
1999
426
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. ( 10592476 )
1999
427
Whole body bone mass and body composition in a girl with achondroplasia, at ages 9 through 12. ( 10499979 )
1999
428
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. ( 10377013 )
1999
429
Achondroplasia associated with pelvic lipomatosis. ( 10459943 )
1999
430
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. ( 10482885 )
1999
431
Achondroplasia associated with pelvic lipomatosis. ( 10459944 )
1999
432
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. ( 10405653 )
1999
433
Jugular bulb dehiscence in achondroplasia. ( 10375043 )
1999
434
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. ( 10587515 )
1999
435
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. ( 10445347 )
1999
436
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia]. ( 9949234 )
1999
437
Achondroplasia: a case of neglect? ( 9872238 )
1998
438
[Achondroplasia: molecular study of 28 patients]. ( 9611730 )
1998
439
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. ( 9869286 )
1998
440
Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. ( 9539301 )
1998
441
Orthodontic treatment of Class II division 1 malocclusion in a patient with achondroplasia. ( 9709839 )
1998
442
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. ( 9780920 )
1998
443
Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia. ( 9569124 )
1998
444
Achondroplasia associated with Down syndrome. ( 9605293 )
1998
445
Medical complications of achondroplasia: a multicentre patient review. ( 9733026 )
1998
446
Sleep-disordered breathing in children with achondroplasia. ( 9580768 )
1998
447
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. ( 9797588 )
1998
448
The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. ( 9703409 )
1998
449
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. ( 9718331 )
1998
450
Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. ( 9745773 )
1998
451
Genotype phenotype correlation in achondroplasia and hypochondroplasia. ( 9853502 )
1998
452
Functional health status of adults with achondroplasia. ( 9637420 )
1998
453
Lung volume histograms after computed tomography of the chest with three-dimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. ( 9607482 )
1998
454
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. ( 9554479 )
1998
455
Urine leakage from the umbilicus in a child with achondroplasia and tetraplegia (due to cervical stenosis): a safety vent for the obstructed neuropathic bladder. ( 9203037 )
1997
456
Early detection of neurological manifestations in achondroplasia. ( 9202856 )
1997
457
Atypical achondroplasia. ( 9128943 )
1997
458
1997 Albert Lasker Award for Special Achievement in Medical Science. Observations over 50 years concerning intestinal polyposis, Marfan syndrome and achondroplasia. ( 9334707 )
1997
459
Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. ( 9158142 )
1997
460
Bone marrow transplantation in a patient with chronic myeloid leukemia and achondroplasia. ( 9499671 )
1997
461
Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. ( 9213228 )
1997
462
Hydrocephalus and chronically increased intracranial pressure in achondroplasia. ( 9272288 )
1997
463
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. ( 9124710 )
1997
464
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia. ( 9401015 )
1997
465
The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. ( 9070944 )
1997
466
Achondroplasia: recent advances in diagnosis and treatment. ( 9316303 )
1997
467
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 9372781 )
1997
468
Growth and growth hormone therapy in children with achondroplasia: a two-year experience. ( 9295079 )
1997
469
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. ( 9199352 )
1997
470
Effects and serum levels of thrombopoietin in a case of chronic thrombocytopenia with achondroplasia. ( 9220665 )
1997
471
Prevention of fixed, angular kyphosis in achondroplasia. ( 9591973 )
1997
472
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. ( 8923856 )
1996
473
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. ( 9115628 )
1996
474
Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. ( 8682509 )
1996
475
Limb lengthening in children with achondroplasia. Differences based on gender. ( 8913161 )
1996
476
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. ( 9001669 )
1996
477
Errors in the prenatal diagnosis of children with achondroplasia. ( 8809893 )
1996
478
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. ( 8742128 )
1996
479
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. ( 9055906 )
1996
480
Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. ( 8929879 )
1996
481
Standard weight for height curves in achondroplasia. ( 8882783 )
1996
482
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. ( 8779333 )
1996
483
[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)]. ( 8949407 )
1996
484
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. ( 8723101 )
1996
485
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia. ( 8844216 )
1996
486
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. ( 8640234 )
1996
487
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. ( 8878289 )
1996
488
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. ( 8949408 )
1996
489
Surgical management of cervicomedullary compression in achondroplasia. ( 9118140 )
1996
490
Human growth hormone treatment in prepubertal children with achondroplasia. ( 8834055 )
1996
491
Analysis of cellular proteins in achondroplasia by two-dimensional electrophoresis. ( 8871281 )
1996
492
Case report: renal osteodystrophy in association with spinal stenosis in achondroplasia. ( 8824015 )
1996
493
Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. ( 9309784 )
1996
494
Achondroplasia. ( 8920380 )
1996
495
The surgical treatment of vertebral deformities in achondroplastic dwarfism. ( 8968116 )
1996
496
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. ( 8599935 )
1996
497
Sleep and upper airway obstruction in children with achondroplasia. ( 8917243 )
1996
498
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. ( 8585566 )
1995
499
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. ( 7758520 )
1995
500
Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. ( 7862491 )
1995
501
Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375) ( 8599370 )
1995
502
Achondroplasia is defined by recurrent G380R mutations of FGFR3. ( 7847369 )
1995
503
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. ( 8588588 )
1995
504
Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia. ( 8851771 )
1995
505
Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. ( 7617874 )
1995
506
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. ( 7702086 )
1995
507
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. ( 7717392 )
1995
508
Brain morphometric analysis in achondroplasia. ( 7898709 )
1995
509
A case of achondroplasia with downward displacement of the brain stem. ( 7666963 )
1995
510
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. ( 7887429 )
1995
511
Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. ( 8576562 )
1995
512
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. ( 7649548 )
1995
513
Information update on Achondroplasia. ( 7700776 )
1995
514
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. ( 7586642 )
1995
515
Surgical intervention in achondroplasia. ( 7762574 )
1995
516
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. ( 7966194 )
1994
517
Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia. ( 7636958 )
1994
518
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. ( 7968151 )
1994
519
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. ( 8081365 )
1994
520
Achondroplasia with XXY karyotype. ( 8062443 )
1994
521
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. ( 7913883 )
1994
522
Cervicomedullary compression in achondroplasia. ( 8207526 )
1994
523
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. ( 8078586 )
1994
524
Therapy-resistant papilledema in achondroplasia. ( 8032476 )
1994
525
Sonographic prenatal diagnosis of heterozygous achondroplasia: a case report. ( 7745378 )
1994
526
Foramen magnum stenosis and bilateral benign subdural collections in achondroplasia: case report. ( 7562034 )
1994
527
Achondroplasia: pre- and postsurgical considerations for midface advancement. ( 8130246 )
1994
528
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. ( 8012398 )
1994
529
The gene for achondroplasia maps to the telomeric region of chromosome 4p. ( 8012397 )
1994
530
Growth hormone (GH) treatment in achondroplasia. ( 8374688 )
1993
531
Growth hormone therapy in achondroplasia. ( 8317186 )
1993
532
Achondroplasia and spinal cord lesion. Three case reports. ( 8337000 )
1993
533
Achondroplasia ( 20301331 )
1993
534
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. ( 8267011 )
1993
535
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. ( 8341638 )
1993
536
Breathing abnormalities in sleep in achondroplasia. ( 8215519 )
1993
537
Hearing loss and temporal bone structure in achondroplasia. ( 8456822 )
1993
538
Cognitive skills in achondroplasia. ( 8267016 )
1993
539
Comprehensive correction of the craniofacial deformity in achondroplastic dwarfism. ( 1466552 )
1992
540
[Intracranial MR imaging of achondroplasia]. ( 1448336 )
1992
541
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. ( 1453438 )
1992
542
Growth hormone therapy in achondroplasia. ( 1632435 )
1992
543
Achondroplasia: unusual bone abnormalities of the cervical spine. ( 1635629 )
1992
544
Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation. ( 1508600 )
1992
545
Leg lengthening: patient selection and management in achondroplasia. ( 1945337 )
1991
546
Prediction of the growth in patients with achondroplasia. ( 1759634 )
1991
547
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. ( 1909491 )
1991
548
Growth-promoting effect of human growth hormone on patients with achondroplasia. ( 1785332 )
1991
549
Achondroplasia and lumbar spinal stenosis. ( 1797731 )
1991
550
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? ( 1952787 )
1991
551
Variation of quantitative and qualitative changes of enchondral ossification in heterozygous achondroplasia. ( 1906169 )
1991
552
Stenosis of the spinal canal in achondroplasia. ( 1791130 )
1991
553
Middle ear disease in childhood achondroplasia. ( 1914954 )
1991
554
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. ( 1670752 )
1991
555
A clinical observation of achondroplasia. ( 1776446 )
1991
556
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. ( 1939806 )
1991
557
Neurologic morbidity associated with achondroplasia. ( 2161033 )
1990
558
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 2293921 )
1990
559
Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. ( 2384775 )
1990
560
Homozygous achondroplasia: morphologic and biochemical study of cartilage. ( 2260574 )
1990
561
Spinal dysraphism in achondroplasia. ( 2133408 )
1990
562
Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? ( 2323256 )
1990
563
Bes, Aesop and Morgante: reflections of achondroplasia. ( 2190719 )
1990
564
Foramen magnum decompression in infants with homozygous achondroplasia. ( 2303889 )
1990
565
Extradural anaesthesia for caesarean section in achondroplasia. ( 2328185 )
1990
566
Comparison of education and occupation of adults with achondroplasia with same-sex sibs. ( 2309765 )
1990
567
The lungs and airways in achondroplasia. Do little people have little lungs? ( 2361382 )
1990
568
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. ( 2162805 )
1990
569
The prospective management of cervicomedullary compression in achondroplasia. ( 2697385 )
1989
570
Human achondroplasia: defective mitochondrial oxidative energy metabolism may produce the pathophysiology. ( 2560262 )
1989
571
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. ( 2786928 )
1989
572
Development of pseudo-achondroplasia over a 30-year period in an adult patient. ( 2667861 )
1989
573
MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. ( 2763957 )
1989
574
Foramen magnum decompression for homozygous achondroplasia. ( 2746357 )
1989
575
Limb lengthening for achondroplasia: early experience. ( 2794023 )
1989
576
Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. ( 2909672 )
1989
577
Narrowing of thoraco-lumbar spinal canal in achondroplasia. ( 2677264 )
1989
578
Growth of the foramen magnum in achondroplasia. ( 2773998 )
1989
579
Megalencephaly in thanatophoric dysplasia and in achondroplasia. ( 2585221 )
1989
580
Premutation in achondroplasia. ( 3240248 )
1988
581
Cervicomedullary cord compression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3240254 )
1988
582
The natural history of achondroplasia. ( 3071358 )
1988
583
Orthopedic aspects of achondroplasia in children. ( 3240253 )
1988
584
Achondroplasia with ankylosing spondylitis. ( 3223492 )
1988
585
Kyphosis in achondroplasia: probably preventable. ( 3335958 )
1988
586
Surgical treatment of kyphosis in achondroplasia. ( 3240260 )
1988
587
An analysis of referrals to a regional leg-lengthening service with special reference to achondroplasia. ( 3240276 )
1988
588
Achondroplasia is not caused by mutation in the gene for type II collagen. ( 2899976 )
1988
589
The psychodynamics of achondroplasia. ( 3240281 )
1988
590
Neurological basis of respiratory complications in achondroplasia. ( 3415202 )
1988
591
Human achondroplasia. A multidisciplinary approach. Proceedings of the first international symposium. November 19-21, 1986, Rome, Italy. Volume dedicated to Dr. Alexander Hollaender. ( 3071353 )
1988
592
Audiologic findings in achondroplasia. ( 3240243 )
1988
593
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. ( 3240251 )
1988
594
Anaesthetic management of achondroplasia. ( 3377939 )
1988
595
Molecular genetic studies in achondroplasia. ( 2907290 )
1988
596
Achondroplasia: an altered GH control in post-receptorial chondrocyte cell sites? ( 3240242 )
1988
597
Limb lengthening in achondroplasia by Ilizarov's method. ( 3182120 )
1988
598
Bone formation in achondroplasia. ( 3240240 )
1988
599
Growth plate cartilage studies in achondroplasia. ( 3240287 )
1988
600
Otologic impairments in achondroplasia: a nosologic assessment. ( 3240244 )
1988
601
Social implications of achondroplasia--a public health view. ( 3240282 )
1988
602
Achondroplasia in sibs of normal parents. ( 3236371 )
1988
603
Metacarpophalangeal relations in 21 Danish patients with achondroplasia. ( 3342645 )
1988
604
Social implications of achondroplasia--a public health review. ( 3240283 )
1988
605
Kyphosis and lumbar stenosis in achondroplasia. ( 3240265 )
1988
606
Spirometry and chest wall dimensions in achondroplasia. ( 3338305 )
1988
607
Extended laminectomy for spinal stenosis in achondroplasia. ( 3240261 )
1988
608
Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. ( 3071354 )
1988
609
Clinical variability in achondroplasia. ( 3071355 )
1988
610
Achondroplasia--a clinician's viewpoint. ( 3071356 )
1988
611
Leg lengthening in achondroplasia. ( 2896876 )
1988
612
Cervicomedullary compression with achondroplasia. ( 3397808 )
1988
613
Radiologic features of achondroplasia. ( 3240266 )
1988
614
Neurological considerations in achondroplasia. ( 3240245 )
1988
615
Molecular studies in achondroplasia using Co12A1 probes. ( 3240285 )
1988
616
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 3240272 )
1988
617
Obesity in achondroplasia. ( 3228140 )
1988
618
Treatment of kyphosis and lumbar stenosis in achondroplasia. ( 3240263 )
1988
619
Strategies for limb lengthening in achondroplasia using the Ilizarov method--the experience of the hospital of Lecco, Italy. ( 3240274 )
1988
620
Anatomy of the lumbar spine in achondroplasia. ( 3240258 )
1988
621
Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. ( 3046333 )
1988
622
Histochemical and ultrastructural study of the growth plate in achondroplasia. ( 3240286 )
1988
623
The skull in achondroplasia. ( 3240239 )
1988
624
Relevant principles in the management of spinal disorders in achondroplasia. ( 3240264 )
1988
625
CT of the temporal bone in achondroplasia. ( 3143244 )
1988
626
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. ( 3602395 )
1987
627
Achondroplasia-hypochondroplasia complex. ( 3591840 )
1987
628
Mortality in achondroplasia. ( 3631079 )
1987
629
Surgery for achondroplasia. Perioperative challenges of dwarfism. ( 3650052 )
1987
630
Cytochrome a3 deficiency in human achondroplasia. ( 3030420 )
1987
631
Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. ( 3661058 )
1987
632
Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. ( 3425618 )
1987
633
Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine. ( 3592956 )
1987
634
Levels of creatine kinase activity in cartilage of tubular and nontubular bone in relation to pathogenesis of achondroplasia. ( 3581582 )
1987
635
Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3559799 )
1987
636
Genetic counselling in unexpected familial recurrence of achondroplasia. ( 3688033 )
1987
637
A case report of achondroplasia. ( 3100179 )
1986
638
Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome. ( 3006492 )
1986
639
Foramen magnum stenosis in homozygous achondroplasia. ( 3816858 )
1986
640
Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. ( 3005580 )
1986
641
In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. ( 3517360 )
1986
642
Anaesthetic management of achondroplasia. ( 3942661 )
1986
643
Studies of human achondroplasia: oxidative metabolism in tissue culture cells. ( 3738813 )
1986
644
Achondroplasia and parental age. ( 3945286 )
1986
645
Nonrandom association of a type II procollagen genotype with achondroplasia. ( 2991928 )
1985
646
Familial recurrence of achondroplasia. ( 4061493 )
1985
647
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. ( 4041579 )
1985
648
A morphometric analysis of the craniofacial configuration in achondroplasia. ( 3877092 )
1985
649
Achondroplasia: unexpected familial recurrence. ( 6507475 )
1984
650
Apnea as the sole manifestation of cord compression in achondroplasia. ( 6707795 )
1984
651
Apnea and sudden unexpected death in infants with achondroplasia. ( 6707788 )
1984
652
Long-term neurological sequelae in achondroplasia. ( 6510432 )
1984
653
Alternative explanations for recurrent achondroplasia in siblings of normal parents. ( 6733952 )
1984
654
&amp;quot;Unstable premutation&amp;quot; in achondroplasia: penetrance vs phenotrance. ( 6507476 )
1984
655
Brain tumor and achondroplasia: a case report and review of the literature. ( 6472587 )
1984
656
Short-latency somatosensory evoked potentials in the management of patients with achondroplasia. ( 6540385 )
1984
657
Homozygous achondroplasia with survival beyond infancy. ( 6660245 )
1983
658
Presumed homozygous achondroplasia. A review and report of a further case. ( 6359101 )
1983
659
Achondroplasia associated with obstructive sleep apnea. ( 6625996 )
1983
660
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. ( 6627718 )
1983
661
Achondroplasia and pregnancy. ( 6613102 )
1983
662
Myelography in achondroplasia: value of a lateral C1-2 puncture and non-ionic, water-soluble contrast medium. ( 6611923 )
1983
663
Ketamine induction for cesarean section in a patient with acute intermittent porphyria and achondroplastic dwarfism. ( 6869873 )
1983
664
Achondroplasia and pregnancy. ( 6889650 )
1982
665
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. ( 7298674 )
1981
666
Choanal atresia with achondroplasia. ( 7351612 )
1980
667
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. ( 458831 )
1979
668
Upper cervical myelopathy in achondroplasia. ( 868806 )
1977
669
Probable case of achondroplasia-hypochondroplasia compound. ( 4461068 )
1974
670
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. ( 4697848 )
1973
671
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. ( 4885523 )
1969
672
Significance of the small lumbar spinal canal: cauda equina compression syndromes due to spondylosis. 5. Achondroplasia. ( 5351762 )
1969
673
Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. ( 13885465 )
1961

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

75 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Gly375Cys VAR_004154 rs75790268
2 FGFR3 p.Gly380Arg VAR_004155 rs28931614
3 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Achondroplasia:

6
(showing 14, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
3 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
4 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
5 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
6 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh38 Chromosome 4, 1804377: 1804377
7 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
8 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
9 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
10 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
11 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
12 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
13 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657
14 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh38 Chromosome 4, 1801930: 1801930

Expression for Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for Achondroplasia

Pathways related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 37, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
13.35 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.92 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.71 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
5
Show member pathways
12.7 FGFR1 FGFR2 FGFR3 MAP2K1
6
Show member pathways
12.7 FGF3 FGFR1 FGFR2 FGFR3
7 12.69 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.63 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
9
Show member pathways
12.62 FGF3 FGFR1 FGFR2 MAP2K1
10 12.61 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11
Show member pathways
12.58 FGF3 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
14 12.39 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.37 FGFR1 FGFR2 FGFR3 MAP2K1
16
Show member pathways
12.32 FGFR1 FGFR2 FGFR3 MAP2K1
17
Show member pathways
12.28 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.27 FGF3 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.18 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
20
Show member pathways
12.16 FGF3 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.08 FGFR1 FGFR2 FGFR3 MAP2K1
22 12 FGFR1 FGFR2 FGFR3
23 11.99 FGFR1 FGFR2 FGFR3
24
Show member pathways
11.99 FGF3 FGFR1 FGFR2 FGFR3
25 11.9 FGFR1 FGFR2 FGFR3 MAP2K1
26
Show member pathways
11.89 BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
27 11.83 FGFR1 MAP2K1 PTH1R
28 11.74 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.74 FGFR1 FGFR2 FGFR3 MAP2K1
30 11.68 FGFR1 FGFR3 SOX9
31 11.63 FGFR1 FGFR2 FGFR3 SOX9
32 11.37 FGFR1 FGFR2 FGFR3
33 11.27 FGFR1 FGFR2 FGFR3 MAP2K1
34 11.22 ACAN COMP
35 11.17 ACAN FGFR1 FGFR3 PTH1R SOX9
36 10.97 FGFR1 MAP2K1
37 10.64 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1

GO Terms for Achondroplasia

Cellular components related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 ACAN BMP8B COMP FGF3 FGFR1 FGFR2
2 receptor complex GO:0043235 8.92 FGFR1 FGFR2 FGFR3 PTH1R

Biological processes related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 40, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.96 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.9 FGFR1 FGFR2 FGFR3 MAP2K1
3 positive regulation of cell proliferation GO:0008284 9.88 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
4 extracellular matrix organization GO:0030198 9.85 ACAN COMP SOX9
5 positive regulation of protein kinase B signaling GO:0051897 9.85 FGF3 FGFR1 FGFR2 FGFR3
6 MAPK cascade GO:0000165 9.85 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 protein autophosphorylation GO:0046777 9.84 FGFR1 FGFR2 FGFR3
8 positive regulation of MAPK cascade GO:0043410 9.83 FGFR1 FGFR2 FGFR3
9 negative regulation of signal transduction GO:0009968 9.83 FGFR1 FGFR2 FGFR3
10 central nervous system development GO:0007417 9.81 ACAN FGFR1 FGFR2 SOX9
11 positive regulation of kinase activity GO:0033674 9.79 FGFR1 FGFR2 FGFR3
12 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF3 FGFR1 FGFR2 FGFR3
13 ossification GO:0001503 9.73 BMP8B NPPC PTH1R SOX9
14 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
15 bone mineralization GO:0030282 9.71 FGFR2 FGFR3 PTH1R
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.68 FGFR1 FGFR2
17 cell maturation GO:0048469 9.68 FGFR1 PTH1R
18 bone morphogenesis GO:0060349 9.67 FGFR2 FGFR3
19 ERK1 and ERK2 cascade GO:0070371 9.67 MAP2K1 SOX9
20 regulation of multicellular organism growth GO:0040014 9.67 FGFR2 NPPC
21 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR1 FGFR2 SOX9
22 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 FGF3 FGFR1 FGFR2 FGFR3
23 limb bud formation GO:0060174 9.65 FGFR2 SOX9
24 branching involved in salivary gland morphogenesis GO:0060445 9.64 FGFR1 FGFR2
25 mesenchymal cell differentiation GO:0048762 9.64 FGFR1 FGFR2
26 lung-associated mesenchyme development GO:0060484 9.63 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.62 FGFR2 FGFR3
28 otic vesicle formation GO:0030916 9.62 FGFR2 SOX9
29 lacrimal gland development GO:0032808 9.59 FGFR2 SOX9
30 prostate gland morphogenesis GO:0060512 9.58 FGFR2 SOX9
31 orbitofrontal cortex development GO:0021769 9.57 FGFR1 FGFR2
32 ventricular zone neuroblast division GO:0021847 9.56 FGFR1 FGFR2
33 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.52 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
36 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
37 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R
38 multicellular organism development GO:0007275 10.11 BMP8B FGF3 FGFR1 FGFR2 FGFR3 SHOX
39 cell differentiation GO:0030154 10.06 BMP8B FGF3 FGFR1 FGFR2 FGFR3 SOX9
40 negative regulation of apoptotic process GO:0043066 10 COMP FGFR1 FGFR2 FGFR3 SOX9

Molecular functions related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 13, show less)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.81 FGFR1 FGFR2 FGFR3 MAP2K1
3 transmembrane signaling receptor activity GO:0004888 9.8 FGFR1 FGFR2 FGFR3 PTH1R
4 heparin binding GO:0008201 9.7 COMP FGFR1 FGFR2
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
6 MAP kinase kinase kinase activity GO:0004709 9.65 FGFR1 FGFR2 FGFR3
7 mitogen-activated protein kinase kinase binding GO:0031434 9.63 FGFR1 FGFR2 FGFR3
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
10 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
11 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
12 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
13 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Achondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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