MCID: SYN106
MIFTS: 35

Syndromic Craniosynostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Syndromic Craniosynostosis

MalaCards integrated aliases for Syndromic Craniosynostosis:

Name: Syndromic Craniosynostosis 59

Classifications:



External Ids:

Orphanet 59 ORPHA139393

Summaries for Syndromic Craniosynostosis

MalaCards based summary : Syndromic Craniosynostosis is related to jackson-weiss syndrome and apert syndrome. An important gene associated with Syndromic Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone, brain and testes, and related phenotypes are cellular and craniofacial

Related Diseases for Syndromic Craniosynostosis

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

(showing 153, show less)
# Related Disease Score Top Affiliating Genes
1 jackson-weiss syndrome 33.0 FGFR3 FGFR2 FGFR1
2 apert syndrome 32.0 TWIST1 FGFR3 FGFR2 FGFR1
3 craniosynostosis 31.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 ERF
4 exophthalmos 30.8 FGFR3 FGFR2
5 beare-stevenson cutis gyrata syndrome 30.4 FGFR3 FGFR2
6 chromosome 2q35 duplication syndrome 30.4 FGFR3 FGFR2
7 muenke syndrome 30.2 TWIST1 FGFR3 FGFR2 FGFR1
8 antley-bixler syndrome 30.2 FGFR2 FGFR1
9 craniosynostosis 1 30.0 TWIST1 ERF
10 strabismus 30.0 TWIST1 FGFR3 FGFR2
11 plagiocephaly 29.9 TWIST1 FGFR3 FGFR2 FGFR1
12 crouzon syndrome 29.8 MSX2 FGFR3 FGFR2 FGFR1 ERF
13 cleidocranial dysplasia 29.7 RUNX2 MSX2
14 pfeiffer syndrome 29.6 TWIST1 RUNX2 FGFR3 FGFR2 FGFR1
15 dysostosis 29.6 TWIST1 RUNX2 FGFR2
16 synostosis 29.2 TWIST1 MSX2 IFT122 FGFR3 FGFR2 FGFR1
17 saethre-chotzen syndrome 28.7 TWIST1 RUNX2 MSX2 FGFR3 FGFR2 FGFR1
18 baller-gerold syndrome 11.7
19 warman mulliken hayward syndrome 11.6
20 craniosynostosis 2 11.5
21 robinow-sorauf syndrome 11.5
22 curry-jones syndrome 11.4
23 craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis 11.4
24 lin-gettig syndrome 11.4
25 craniosynostosis-mental retardation-clefting syndrome 11.2
26 gomez-lopez-hernandez syndrome 11.2
27 cdags syndrome 11.2
28 benallegue lacete syndrome 11.1
29 hydrocephalus, autosomal dominant 11.0
30 3mc syndrome 1 11.0
31 craniosynostosis and dental anomalies 11.0
32 3mc syndrome 11.0
33 baraitser rodeck garner syndrome 11.0
34 calabro syndrome 11.0
35 dandy-walker malformation with sagittal craniosynostosis and hydrocephalus 11.0
36 hunter-mcalpine syndrome 11.0
37 iida kannari syndrome 11.0
38 samson gardner syndrome 11.0
39 hemifacial hyperplasia 10.5 FGFR3 FGFR2
40 sleep apnea 10.4
41 isolated plagiocephaly 10.4 TWIST1 FGFR3
42 isolated brachycephaly 10.4 TWIST1 FGFR3
43 luteoma 10.4 FGFR3 FGFR2
44 fibrolamellar carcinoma 10.4 FGFR2 FGFR1
45 isolated scaphocephaly 10.3 TWIST1 ERF
46 hypertropia 10.3 FGFR3 FGFR2
47 intracranial hypertension 10.3
48 papilledema 10.3
49 hydrocephalus 10.2
50 congenital hydrocephalus 10.2
51 osteochondroma 10.2 FGFR3 FGFR1
52 osteoglophonic dysplasia 10.2 FGFR3 FGFR2 FGFR1
53 radioulnar synostosis 10.2 FGFR3 FGFR2 FGFR1
54 thanatophoric dysplasia, type i 10.2 FGFR3 FGFR2 FGFR1
55 hypochondroplasia 10.2 FGFR3 FGFR2 FGFR1
56 achondroplasia 10.2 FGFR3 FGFR2 FGFR1
57 lacrimoauriculodentodigital syndrome 10.2 FGFR3 FGFR2 FGFR1
58 giant cell glioblastoma 10.1 FGFR3 FGFR1
59 c syndrome 10.1
60 dentin dysplasia 10.1 SPP1 MSX2
61 cleft palate, isolated 10.1 TWIST1 FGFR2 FGFR1
62 parietal foramina with cleidocranial dysplasia 10.1 RUNX2 MSX2
63 gliosarcoma 10.1 TWIST1 FGFR3 FGFR1
64 lung squamous cell carcinoma 10.1 FGFR3 FGFR2 FGFR1
65 acanthosis nigricans 10.0
66 hypertelorism 10.0
67 hydrocephalus, congenital, 1 10.0
68 fgfr-related craniosynostosis syndromes 10.0
69 cerebrospinal fluid leak 10.0
70 chiari malformation 10.0
71 isolated craniosynostosis 10.0
72 chiari malformation type i 9.9
73 polykaryocytosis inducer 9.9
74 3-methylglutaconic aciduria, type iii 9.9
75 craniosynostosis 3 9.9
76 alacrima, achalasia, and mental retardation syndrome 9.9
77 craniosynostosis 5 9.9
78 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
79 gonadal dysgenesis 9.9
80 turner syndrome 9.9
81 conjunctivitis 9.9
82 central sleep apnea 9.9
83 mechanical strabismus 9.9
84 synovial chondromatosis 9.9 RUNX2 FGFR3 FGFR1
85 root resorption 9.8 SPP1 RUNX2
86 parietal foramina 9.8 TWIST1 RUNX2 MSX2
87 pectus excavatum 9.8 SMC1A FGFR3
88 spondyloepiphyseal dysplasia congenita 9.8 RUNX2 FGFR3
89 apnea, obstructive sleep 9.7
90 alagille syndrome 1 9.7
91 cornelia de lange syndrome 1 9.7
92 fibromatosis, gingival, with progressive deafness 9.7
93 hair whorl 9.7
94 hyper-ige recurrent infection syndrome 1, autosomal dominant 9.7
95 kabuki syndrome 1 9.7
96 larsen syndrome 9.7
97 chromosome 5q deletion syndrome 9.7
98 marfan syndrome 9.7
99 neurofibromatosis, type iv, of riccardi 9.7
100 otitis media 9.7
101 palatopharyngeal incompetence 9.7
102 retinal detachment 9.7
103 shprintzen-goldberg craniosynostosis syndrome 9.7
104 digeorge syndrome 9.7
105 craniosynostosis-mental retardation syndrome of lin and gettig 9.7
106 hennekam lymphangiectasia-lymphedema syndrome 1 9.7
107 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
108 intracranial hypertension, idiopathic 9.7
109 roberts syndrome 9.7
110 opitz gbbb syndrome, type i 9.7
111 craniofrontonasal syndrome 9.7
112 craniosynostosis 4 9.7
113 bohring-opitz syndrome 9.7
114 genitopatellar syndrome 9.7
115 capillary malformation-arteriovenous malformation 1 9.7
116 choanal atresia, posterior 9.7
117 crouzon syndrome with acanthosis nigricans 9.7
118 chromosome 19p13.13 deletion syndrome 9.7
119 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.7
120 west syndrome 9.7
121 brachydactyly 9.7
122 scoliosis 9.7
123 adenoid hypertrophy 9.7
124 inguinal hernia 9.7
125 hennekam syndrome 9.7
126 hyper ige syndrome 9.7
127 sensorineural hearing loss 9.7
128 blepharophimosis 9.7
129 klippel-feil syndrome 9.7
130 cholesteatoma of middle ear 9.7
131 cornelia de lange syndrome 9.7
132 hypogonadism 9.7
133 hyperostosis 9.7
134 hypotrichosis 9.7
135 hypogonadotropism 9.7
136 microcephaly 9.7
137 cleidocranial dysplasia spectrum disorder 9.7
138 kat6b-related disorders 9.7
139 encephalocele 9.7
140 lambdoid synostosis 9.7
141 isolated pierre robin sequence 9.7
142 partial deletion of the short arm of chromosome 19 9.7
143 basal encephalocele 9.7
144 pik3ca-related overgrowth syndrome 9.7
145 lymphedema 9.7
146 rare surgical neurologic disease 9.7
147 campomelic dysplasia and related disorders 9.7
148 adenocarcinoma 9.7 FGFR3 FGFR2 FGFR1
149 aortic valve disease 1 9.7 TWIST1 SPP1 RUNX2
150 bone resorption disease 9.7 SPP1 RUNX2
151 ankylosis 9.6 RUNX2 FGFR2
152 bone disease 9.4 SPP1 RUNX2 FGFR3 FGFR2
153 bone development disease 9.2 RUNX2 MSX2 FGFR3 FGFR2 FGFR1

Graphical network of the top 20 diseases related to Syndromic Craniosynostosis:



Diseases related to Syndromic Craniosynostosis

Symptoms & Phenotypes for Syndromic Craniosynostosis

MGI Mouse Phenotypes related to Syndromic Craniosynostosis:

46 (showing 15, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.19 ERF FGFR1 FGFR2 FGFR3 IFT122 RUNX2
2 craniofacial MP:0005382 10.18 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
3 cardiovascular system MP:0005385 10.15 ERF FGFR1 FGFR2 IFT122 MSX2 RUNX2
4 growth/size/body region MP:0005378 10.13 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
5 hematopoietic system MP:0005397 10.06 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
6 digestive/alimentary MP:0005381 10.05 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
7 mortality/aging MP:0010768 10.02 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
8 immune system MP:0005387 9.98 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SMC1A
9 embryo MP:0005380 9.97 ERF FGFR1 FGFR2 IFT122 MSX2 TWIST1
10 limbs/digits/tail MP:0005371 9.91 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2
11 integument MP:0010771 9.88 FGFR1 FGFR2 FGFR3 MSX2 RUNX2 SPP1
12 nervous system MP:0003631 9.81 ERF FGFR1 FGFR2 FGFR3 IFT122 MSX2
13 muscle MP:0005369 9.73 FGFR1 FGFR2 MSX2 RUNX2 SPP1 TWIST1
14 skeleton MP:0005390 9.56 ERF FGFR1 FGFR2 FGFR3 MSX2 RUNX2
15 vision/eye MP:0005391 9.1 FGFR1 FGFR2 FGFR3 IFT122 MSX2 RUNX2

Drugs & Therapeutics for Syndromic Craniosynostosis

Search Clinical Trials , NIH Clinical Center for Syndromic Craniosynostosis

Genetic Tests for Syndromic Craniosynostosis

Anatomical Context for Syndromic Craniosynostosis

MalaCards organs/tissues related to Syndromic Craniosynostosis:

41
Bone, Brain, Testes, Cervix, Eye, Cerebellum

Publications for Syndromic Craniosynostosis

Articles related to Syndromic Craniosynostosis:

(showing 419, show less)
# Title Authors PMID Year
1
Critical Growth Processes for the Midfacial Morphogenesis in the Early Prenatal Period. 38
30773047 2019
2
Correction for Timberlake et al., Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 38
31405973 2019
3
Discussion: Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal Versus External Midface Distraction for Syndromic Craniosynostosis., by Bertrand AA, Lipman KJ, Bradley JP, Reidhead J, Lee JC. 38
31385894 2019
4
Consolidation Time and Relapse: A Systematic Review of Outcomes in Internal Versus External Midface Distraction for Syndromic Craniosynostosis. 38
31385890 2019
5
Muenke syndrome: Medical and surgical comorbidities and long-term management. 38
31111620 2019
6
Intracranial Venous Hypertension in Craniosynostosis: Mechanistic Underpinnings and Therapeutic Implications. 38
30092478 2019
7
Onset and resolution of Chiari malformations and hydrocephalus in syndromic craniosynostosis following posterior vault distraction. 38
31274746 2019
8
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 38
30585077 2019
9
Follow-up study to investigate symmetry and stability of cranioplasty in craniosynostosis - Introduction of new pathology-specific parameters and a comparison to the norm population. 38
31353298 2019
10
Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods. 38
30132994 2019
11
Chiari I malformation in defined genetic syndromes in children: are there common pathways? 38
31363831 2019
12
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. 38
31292255 2019
13
Role of Autologous Fat Injection in Neglected Patients With Anterior Plagiocephaly. 38
31188244 2019
14
Zygomatic Rotation-Advancement: A New Concept for the Correction of Exorbitism in Patients With Syndromic Craniosynostosis. 38
31246629 2019
15
A Novel Technique Using "W-Shaped Steel Wire Suspension System" to Improve the Stability of Rigid External Distraction Devise in a Child with Apert Syndrome. 38
31232989 2019
16
Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 38
31016899 2019
17
Chiari type I and hydrocephalus. 38
31227858 2019
18
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis. 38
30997567 2019
19
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method. 38
30817519 2019
20
Le Fort III in Syndromic Craniosynostosis: Cost Comparison of Distraction Osteogenesis Versus Single-Stage Internal Fixation Techniques. 38
31106169 2019
21
Nonsyndromic Craniosynostosis. 38
30851746 2019
22
Syndromic Craniosynostosis. 38
30851747 2019
23
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. 38
30758909 2019
24
Infant Midnasal Stenosis: Reliability of Nasal Metrics. 38
30765383 2019
25
Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. 38
30661112 2019
26
Apert syndrome without craniosynostosis. 38
30643948 2019
27
The turricephaly index: A validated method for recording turricephaly and its natural history in Apert syndrome. 38
30683622 2019
28
Eruption of Maxillary Posterior Permanent Molars following Early Conventional Le Fort III Advancement and Early Le Fort III Distraction Procedures Compared to Late Surgical Intervention. 38
30817661 2019
29
Perioperative Outcomes of Secondary Frontal Orbital Advancement After Posterior Vault Distraction Osteogenesis. 38
31137452 2019
30
Retroposition of the Globe After Le Fort III Midfacial Distraction. 38
30531276 2019
31
Retrospective Review of the Complication Profile Associated with 71 Subcranial and Transcranial Midface Distraction Procedures at a Single Institution. 38
30531617 2019
32
Non-Syndromic Craniosynostosis Mimicking Primary Pseudotumor Cerebri Syndrome. 38
30474204 2019
33
Mouse Models of Syndromic Craniosynostosis. 38
30976280 2019
34
Syndromic Craniosynostosis: Complexities of Clinical Care. 38
30976282 2019
35
Reliable manifestations of increased intracranial pressure in patients with syndromic craniosynostosis. 38
30497950 2019
36
Correlation between Papilledema and Intracranial Hypertension in Crouzon Syndrome: A Case Report and Review of the Literature. 38
31269504 2019
37
Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis. 38
30418288 2019
38
Perinasal Osteotomy With Distraction Osteogenesis for a Mild Syndromic Craniosynostosis. 38
30418289 2019
39
Non-syndromic craniosynostosis treated by frontal orbital advancement: A case report. 38
30647221 2018
40
Optic Nerve Hypoplasia and Crouzon Syndrome. 38
30571838 2018
41
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis. 38
30391508 2018
42
Airway anomalies in patients with craniosynostosis. 38
30456762 2018
43
Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse. 38
30266836 2018
44
Intracranial Volume and Head Circumference in Children with Unoperated Syndromic Craniosynostosis. 38
30113443 2018
45
Ultrasound diagnosis of tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome. 38
30022259 2018
46
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome. 38
30040876 2018
47
Prevention of recurrence post leptomeningeal cyst repair. 38
30351293 2018
48
[Three-Dimensional Skull Model with Vascular Structures for Occipital Expansion in Patients with Developed Occipital Emissary Veins]. 38
30369489 2018
49
Proptosis Correction in Pre-Adolescent Patients With Syndromic Craniosynostosis by Le Fort III Distraction Osteogenesis. 38
29771833 2018
50
Evaluating the National Surgical Quality Improvement Program-Pediatric Surgical Risk Calculator for Pediatric Craniosynostosis Surgery. 38
29877982 2018
51
Serious Complications After Le Fort III Distraction Osteogenesis in Syndromic Craniosynostosis: Evolution of Preventive and Therapeutic Strategies. 38
29944568 2018
52
Image based simulation of the low dose computed tomography images suggests 13 mAs 120 kV suitability for non-syndromic craniosynostosis diagnosis without iterative reconstruction algorithms. 38
30017275 2018
53
Craniometric Analysis of Frontal Cranial Morphology Following Posterior Vault Distraction. 38
29521768 2018
54
Non-syndromic craniosynostosis in children: Scoping review. 38
29924758 2018
55
Non-syndromic single-suture craniosynostosis in triplets. 38
29460062 2018
56
Distraction osteogenesis in the surgical management of syndromic craniosynostosis: a comprehensive review of published papers. 38
29661509 2018
57
An audiological evaluation of syndromic and non-syndromic craniosynostosis in pre-school going children. 38
29728184 2018
58
Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern. 38
29520643 2018
59
Electrocardiographic variables in children with syndromic craniosynostosis and primary snoring to mild obstructive sleep apnea: significance of identifying respiratory arrhythmia during sleep. 38
29680416 2018
60
Posterior Vault Distraction Osteogenesis in Nonsyndromic Patients: An Evaluation of Indications and Safety. 38
29381615 2018
61
Overactive autophagy is a pathological mechanism underlying premature suture ossification in nonsyndromic craniosynostosis. 38
29695736 2018
62
Incidence of Cranial Base Suture Fusion in Infants with Craniosynostosis. 38
29595734 2018
63
A Survey of Orthodontic Treatment in Team Care for Patients With Syndromic Craniosynostosis in Japan. 38
29351022 2018
64
Less invasive treatment of sleep-disordered breathing in children with syndromic craniosynostosis. 38
29688857 2018
65
Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis. 38
29566469 2018
66
Evaluating Trends in Headache and Revision Surgery following Cranial Vault Remodeling for Craniosynostosis. 38
29481403 2018
67
Retrospective study on midfacial advancement in syndromic craniosynostosis: case series. 38
29345318 2018
68
Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis: Correction. 38
29481418 2018
69
Crouzon with Acanthosis Nigricans and Odontogenic Tumors: A Rare Form of Syndromic Craniosynostosis. 38
29351036 2018
70
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes. 38
29561715 2018
71
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. 38
29037998 2018
72
Clinical Significance of Venous Anomalies in Syndromic Craniosynostosis. 38
29464157 2018
73
The Effect of Midface Advancement Surgery on Obstructive Sleep Apnoea in Syndromic Craniosynostosis. 38
29286994 2018
74
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. 38
30038786 2018
75
Use of Multidirectional Cranial Distraction Osteogenesis for Cranial Expansion in Syndromic Craniosynostosis. 38
29632790 2017
76
Discussion: Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis. 38
28820840 2017
77
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report. 38
29245229 2017
78
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. 38
29109840 2017
79
Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system. 38
29236889 2017
80
Five-Year Follow-Up of Midface Distraction in Growing Children with Syndromic Craniosynostosis. 38
28820838 2017
81
Rectus muscle excyclorotation and V-pattern strabismus: a quantitative appraisal of clinical relevance in syndromic craniosynostosis. 38
28320694 2017
82
Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis. 38
28939204 2017
83
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. 38
28849010 2017
84
Minor Suture Fusion in Syndromic Craniosynostosis. 38
28574949 2017
85
Discussion: Minor Suture Fusion in Syndromic Craniosynostosis. 38
28841619 2017
86
Corrected Cephalometric Analysis to Determine the Distance and Vector of Distraction Osteogenesis for Syndromic Craniosynostosis. 38
29062650 2017
87
Early Complications and Associated Perioperative Factors in Nonsyndromic Craniosynostosis. 38
28358766 2017
88
[Guide to clinical practice for the diagnosis, treatment and rehabilitation of non-syndromic craniosynostosis on 3 levels of care]. 38
28034516 2017
89
Overexpression of Glypican 3 Promotes Proliferation, Regulates Cell Cycle Progression, and Inhibits Apoptosis of Human Fetal Osteoblastic Cell Line 1.19. 38
28796105 2017
90
BmpR1A is a major type 1 BMP receptor for BMP-Smad signaling during skull development. 38
28641928 2017
91
De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis. 38
28808027 2017
92
Evidence-Based Medicine: Nonsyndromic Craniosynostosis. 38
28654618 2017
93
Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. 38
28474983 2017
94
What's New in Syndromic Craniosynostosis Surgery? 38
28654610 2017
95
Monobloc Frontofacial or Le Fort III Distraction Osteogenesis in Syndromic Craniosynostosis: Three-Dimensional Evaluation of Treatment Outcome and the Need for Central Distraction. 38
28538077 2017
96
Bone Fusion in Normal and Pathological Development is Constrained by the Network Architecture of the Human Skull. 38
28611422 2017
97
A Surgical Technique for Management of the Metopic Suture in Syndromic Craniosynostosis. 38
28468147 2017
98
Tracheal Cartilaginous Sleeve in Syndromic Craniosynostosis: An Underrecognized Source of Significant Morbidity and Mortality. 38
28468151 2017
99
Complete Resolution of Papilledema in Syndromic Craniosynostosis with Posterior Cranial Vault Distraction. 38
28904587 2017
100
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. 38
28328806 2017
101
Comparison between piezosurgery and conventional osteotomy in cranioplasty with fronto-orbital advancement. 38
28108236 2017
102
[Management of syndromic craniosynostosis using posterior cranial vault distraction osteogenesis:preliminary findings]. 38
30070799 2017
103
Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme. 38
28069589 2017
104
Evaluating the Efficacy of Monobloc Distraction in the Crouzon-Pfeiffer Craniofacial Deformity Using Geometric Morphometrics. 38
28121883 2017
105
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. 38
27683237 2017
106
Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. 38
28790902 2017
107
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis. 38
29230096 2017
108
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis. 38
27228464 2017
109
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples. 38
29093661 2017
110
Multidisciplinary care of craniosynostosis. 38
28740400 2017
111
The Management of Blood Loss in Non-Syndromic Craniosynostosis Patients Undergoing Barrel Stave Osteotomy. 38
27593762 2017
112
Sleep Architecture Linked to Airway Obstruction and Intracranial Hypertension in Children with Syndromic Craniosynostosis. 38
27879596 2016
113
Sudden death associated with syndromic craniosynostosis. 38
27891566 2016
114
Discussion: Sleep Architecture Linked to Airway Obstruction and Intracranial Hypertension in Children with Syndromic Craniosynostosis. 38
27879597 2016
115
Impact of Fronto-Orbital Advancement on Frontal Sinus Volume, Morphology, and Disease in Nonsyndromic Craniosynostosis. 38
27391831 2016
116
Syndromic Craniosynostosis. 38
27712819 2016
117
[Craniofacial strategy for syndromic craniosynostosis]. 38
27692993 2016
118
[Non syndromic craniosynostosis]. 38
27499256 2016
119
The Significance of Squamosal Suture Synostosis. 38
27438438 2016
120
Outcomes of endoscopic suturectomy with postoperative helmet therapy in bilateral coronal craniosynostosis. 38
27203136 2016
121
Early Posterior Vault Distraction Osteogenesis for the Treatment of Syndromic Craniosynostosis. 38
27516836 2016
122
The Quality of Life in Adult Patients With Syndromic Craniosynostosis From Their Perspective. 38
27438436 2016
123
Reduction of transfusion requirements in pediatric craniosynostosis surgery by a new local hemostatic agent. 38
27449481 2016
124
Assessment of Smell Function in Syndromic Craniosynostosis Patients. 38
27483093 2016
125
[Craniosynostosis and strabismus]. 38
27562283 2016
126
Lumbar Puncture Pressures During Childhood in 262 Children with Craniosynostosis. 38
27178233 2016
127
Craniosynostosis and Resynostosis: Models, Imaging, and Dental Implications. 38
27076448 2016
128
A Perioperative Risk Comparison of Posterior Vault Distraction Osteogenesis in an Older Pediatric Population. 38
27380577 2016
129
[INFLUENCED ARBEPOETINALFA TO REDUCE THE NUMBER OF BLOOD TRANSFUSION IN CHILDREN WITH NON-SYNDROMIC CRANIOSYNOSTOSIS.] 38
29470893 2016
130
Telemetric Intracranial Pressure Monitoring in Syndromic Craniosynostosis. 38
27152573 2016
131
Prevention and management of hearing loss in syndromic craniosynostosis: A case series. 38
27240504 2016
132
Genetic Syndromes Associated with Craniosynostosis. 38
27226847 2016
133
Neurodevelopmental Problems in Non-Syndromic Craniosynostosis. 38
27226855 2016
134
Physiological Changes and Clinical Implications of Syndromic Craniosynostosis. 38
27226850 2016
135
Update of Diagnostic Evaluation of Craniosynostosis with a Focus on Pediatric Systematic Evaluation and Genetic Studies. 38
27226851 2016
136
An Algorithm for Managing Syndromic Craniosynostosis Using Posterior Vault Distraction Osteogenesis. 38
27119945 2016
137
Discussion: An Algorithm for Managing Syndromic Craniosynostosis Using Posterior Vault Distraction Osteogenesis. 38
27119946 2016
138
Abnormal transcranial Doppler cerebral blood flow velocity and blood pressure profiles in children with syndromic craniosynostosis and papilledema. 38
26857754 2016
139
Transmaxillary Sinus Approach for Le Fort II Osteotomy. 38
27014548 2016
140
The prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis. 38
26602951 2016
141
Complications in Posterior Cranial Vault Distraction. 38
25954848 2016
142
Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. 38
25650655 2016
143
A case of unilateral coronal synostosis from Medieval Hungary (9th century A.D.). 38
26555924 2016
144
Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis. 38
26720640 2016
145
Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2. 38
26966713 2015
146
Appropriate indication of fronto-orbital advancement by distraction osteogenesis in syndromic craniosynostosis: Beyond the conventional technique. 38
26463472 2015
147
Upper Airway Length is Predictive of Obstructive Sleep Apnea in Syndromic Craniosynostosis. 38
26608151 2015
148
Clinical and genetic characteristics of craniosynostosis in Hungary. 38
26289989 2015
149
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. 38
26097063 2015
150
A Novel Technique Using Customized Headgear for Fixation of Rigid External Distraction Device in an Infant With Crouzon Syndrome. 38
26594993 2015
151
Pseudomeningocele With Orbital Extension as a Complication of Fronto-Orbital Advancement and Remodeling in Craniosynostosis. 38
26413959 2015
152
A 3D morphometric follow-up analysis after frontoorbital advancement in non-syndromic craniosynostosis. 38
26293191 2015
153
Change in Mandibular Position in Patients With Syndromic Craniosynostosis After Midfacial Advancement With Distraction Osteogenesis. 38
25210859 2015
154
The Management of Obstructive Sleep Apnea in Syndromic Craniosynostosis. 38
26335319 2015
155
Algorithm for the Management of Intracranial Hypertension in Children with Syndromic Craniosynostosis. 38
25909300 2015
156
Crouzon's Syndrome with Life-Threatening Ear Bleed: Ruptured Jugular Vein Diverticulum Treated by Endovascular Embolization. 38
25212416 2015
157
A Rare Orbital Complication of Eye Exodeviation With Limited Abduction During Monobloc Le Fort III Distraction Osteogenesis. 38
25007030 2015
158
Three-dimensional position changes of the midface following Le Fort III advancement in syndromic craniosynostosis. 38
26026886 2015
159
Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient. 38
26557159 2015
160
Volumetric changes in cranial vault expansion: comparison of fronto-orbital advancement and posterior cranial vault distraction osteogenesis. 38
25724062 2015
161
The Use of Brainlab Navigation in Le Fort III Osteotomy. 38
25974764 2015
162
Describing Crouzon and Pfeiffer syndrome based on principal component analysis. 38
25792443 2015
163
Upward transtentorial herniation following frontoorbital advancement for syndromic craniosynostosis: case report. 38
25929970 2015
164
Treatment of the syndromic midface: a long-term assessment at skeletal maturity. 38
25811585 2015
165
The importance of timing in optimizing cranial vault remodeling in syndromic craniosynostosis. 38
25502856 2015
166
Three-dimensional computed tomographic evaluation of Le Fort III distraction osteogenesis with an external device in syndromic craniosynostosis. 38
25605236 2015
167
S267P mutation in FGFR2: first report in a patient with Crouzon syndrome. 38
25759927 2015
168
Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis. 38
25424318 2015
169
Frontofacial advancement by distraction osteogenesis: a long-term review. 38
25626799 2015
170
A novel mutation in FGFR2. 38
25425289 2015
171
Posterior Cranial Vault Distraction Osteogenesis with Barrel Stave Osteotomy in the Treatment of Craniosynostosis. 38
26226978 2015
172
Ophthalmic findings in children with nonsyndromic craniosynostosis treated by expansion cranioplasty. 38
25569390 2015
173
Tracheal cartilaginous sleeve association with syndromic midface hypoplasia. 38
25375853 2015
174
Complications in 54 frontofacial distraction procedures in patients with syndromic craniosynostosis. 38
25569391 2015
175
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 38
25441602 2014
176
Incidence of Amblyopia and Its Risk Factors in Children With Isolated Metopic Craniosynostosis. 38
25436426 2014
177
Craniofacial anomalies. 38
25444726 2014
178
Advances in the Treatment of Syndromic Midface Hypoplasia Using Monobloc and Facial Bipartition Distraction Osteogenesis. 38
26417208 2014
179
Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of "minor" sutures. 38
25008401 2014
180
Strengthening molecular genetics and training in craniosynostosis: The need of the hour. 38
25288859 2014
181
Earlier evidence of spheno-occipital synchondrosis fusion correlates with severity of midface hypoplasia in patients with syndromic craniosynostosis. 38
25158708 2014
182
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. 38
26146596 2014
183
Correction of infraorbital and malar deficiency using costal osteochondral graft along with orthognathic surgery in Crouzon syndrome. 38
25153066 2014
184
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly. 38
24864036 2014
185
Posterior cranial vault distraction with resorbable distraction devices. 38
25006906 2014
186
Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. 38
24864183 2014
187
The spheno-occipital synchondrosis fuses prematurely in patients with Crouzon syndrome and midface hypoplasia compared with age- and gender-matched controls. 38
24480760 2014
188
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review. 38
24656465 2014
189
Airway statuses and nasopharyngeal airway use for airway obstruction in syndromic craniosynostosis. 38
24820706 2014
190
Le Fort IV + I distraction osteogenesis using an internal device for syndromic craniosynostosis. 38
24280175 2014
191
Abstract 82: What is the Optimal Age for Cranial Vault Remodeling in Syndromic Craniosynostosis? Insights from the Johns Hopkins Experience. 38
25942193 2014
192
Evidence for long-term effectiveness of cranial distraction osteogenesis for syndromic craniosynostosis. 38
23664382 2014
193
Cranial distraction osteogenesis for syndromic craniosynostosis: long-term follow-up and effect on postoperative cranial growth. 38
24090721 2014
194
A osteogenesis distraction device enabling control of vertical direction for syndromic craniosynostosis. 38
25289307 2014
195
Fronto-orbital advancement and total calvarial remodelling for craniosynostosis. 38
24491007 2014
196
Twenty-five-years follow-up results of our total cranial reshaping "bamboo-ware method". 38
23832073 2014
197
Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome. 38
24741262 2014
198
Premature closure of the spheno-occipital synchondrosis in Pfeiffer syndrome: a link to midface hypoplasia. 38
24406578 2014
199
Characterization of distinct classes of differential gene expression in osteoblast cultures from non-syndromic craniosynostosis bone. 38
25184005 2014
200
Measuring upper airway volume: accuracy and reliability of Dolphin 3D software compared to manual segmentation in craniosynostosis patients. 38
24095009 2014
201
Is there an effect of obstructive sleep apnea syndrome on oxidative stress and inflammatory parameters in patients with craniofacial anomalies? 38
24220372 2013
202
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis. 38
24498618 2013
203
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 38
24497711 2013
204
Surgical management of patients with a history of early Le Fort III advancement after they have attained skeletal maturity. 38
24076707 2013
205
Soft-tissue profile changes following early Le Fort III distraction in growing children with syndromic craniosynostosis. 38
24076685 2013
206
Orbital aspects following monobloc advancement in syndromic craniosynostosis. 38
23352809 2013
207
Early midfacial distraction for syndromic craniosynostotic patients with obstructive sleep apnoea. 38
23702195 2013
208
Suitable indication for the application of distraction osteogenesis: occipital enlargement for lambdoid synostosis. 38
24036720 2013
209
How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study. 38
23702437 2013
210
Posterior vault distraction with midface distraction without osteotomy as a first stage for syndromic craniosynostosis. 38
23851785 2013
211
Laryngotracheal anomalies in children with syndromic craniosynostosis undergoing tracheostomy. 38
23851823 2013
212
Psychosocial outcomes in children with and without non-syndromic craniosynostosis: findings from two studies. 38
22315944 2013
213
Augmentation of Smad-dependent BMP signaling in neural crest cells causes craniosynostosis in mice. 38
23281127 2013
214
A craniometric analysis of posterior cranial vault distraction osteogenesis. 38
23714797 2013
215
Cranial vault growth in multiple-suture nonsyndromic and syndromic craniosynostosis: a postoperative long-term anthropometric follow-up. 38
23714873 2013
216
Study of environmental and genetic factors in children with craniosynostosis: A case-control study. 38
24082921 2013
217
Adenotonsillectomy for obstructive sleep apnea in children with syndromic craniosynostosis. 38
23542256 2013
218
Central sleep apnea and associated Chiari malformation in children with syndromic craniosynostosis: treatment and outcome data from a supraregional national craniofacial center. 38
23240845 2013
219
Sleep-disordered breathing in children with craniosynostosis. 38
22535197 2013
220
3D of Brain Shape and Volume After Cranial Vault Remodeling Surgery for Craniosynostosis Correction in Infants. 38
24465118 2013
221
Soft-tissue volumetric changes following monobloc distraction procedure: analysis using digital three-dimensional photogrammetry system (3dMD). 38
23524705 2013
222
Sleep apnoea in syndromic craniosynostosis occurs independent of hindbrain herniation. 38
23007866 2013
223
Preoperative and postoperative orbital volume in patients with Crouzon and Apert syndrome. 38
23348283 2013
224
RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis. 38
23348268 2013
225
Familial nonsyndromic craniosynostosis with specific deformity of the cranium. 38
23039839 2012
226
Differential closure of the spheno-occipital synchondrosis in syndromic craniosynostosis. 38
22777037 2012
227
Interrelationship of cranial suture fusion, basicranial development, and resynostosis following suturectomy in twist1(+/-) mice, a murine model of Saethre-Chotzen syndrome. 38
22903506 2012
228
Chiari malformation in nonsyndromal single craniosynostosis--much ado about nothing? 38
22790904 2012
229
Craniosynostosis: molecular pathways and future pharmacologic therapy. 38
23249483 2012
230
Morphometric comparison of foramen magnum in non-syndromic craniosynostosis patients with or without Chiari I malformation. 38
22868492 2012
231
Nocturnal ultrasound measurements of optic nerve sheath diameter correlate with intracranial pressure in children with craniosynostosis. 38
22929269 2012
232
Analysis of morbidity and mortality in surgical management of craniosynostosis. 38
22948658 2012
233
Simultaneous and differential fronto-orbital and midface distraction osteogenesis for syndromic craniosynostosis using rigid external distractor II. 38
22976628 2012
234
Posterior cranial vault expansion using distraction osteogenesis. 38
22872272 2012
235
Posterior cranial vault expansion in the treatment of craniosynostosis. Comparison of current techniques. 38
22872270 2012
236
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. 38
22872262 2012
237
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome. 38
22664175 2012
238
Syndromic craniosynostosis, fibroblast growth factor receptor 2 (FGFR2) mutations, and sacrococcygeal eversion presenting as human tails. 38
22661218 2012
239
Adenotonsillectomy for the management of obstructive sleep apnea in children with congenital craniosynostosis syndromes. 38
22777462 2012
240
Frontofacial advancement by internal distraction devices. A technical modification for the management of craniofacial dysostosis in early childhood. 38
22483446 2012
241
Syndromic craniosynostosis. 38
23633933 2012
242
Does central sleep apnea occur in children with syndromic craniosynostosis? 38
22484378 2012
243
Orbital volume and surface after Le Fort III advancement in syndromic craniosynostosis. 38
22565907 2012
244
Orbital change following Le Fort III advancement in syndromic craniosynostosis: quantitative evaluation of orbital volume, infra-orbital rim and globe position. 38
21752661 2012
245
Upper airway changes in syndromic craniosynostosis patients following midface or monobloc advancement: correlation between volume changes and respiratory outcome. 38
21624836 2012
246
A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis. 38
22156914 2012
247
Perioperative morbidity in posterior cranial vault expansion: distraction osteogenesis versus conventional osteotomy. 38
22456381 2012
248
Long-term follow-up of syndromic craniosynostosis after Le Fort III halo distraction: a cephalometric and CT evaluation. 38
22227504 2012
249
A novel craniofacial osteogenesis distraction system enabling control of distraction distance and vector for the treatment of syndromic craniosynostosis. 38
22421842 2012
250
Volumetric analysis of anterior versus posterior cranial vault expansion in patients with syndromic craniosynostosis. 38
22421838 2012
251
Resolution of syndromic craniosynostosis-associated Chiari malformation Type I without suboccipital decompression after posterior cranial vault release. 38
22295912 2012
252
Development of secondary unilateral coronal suture synostosis with a sagittal suture synostosis in a nonsyndromic patient. 38
22295913 2012
253
Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis. 38
22654505 2012
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Fronto-facial monobloc distraction in syndromic craniosynostosis. Three-dimensional evaluation of treatment outcome and facial growth. 38
22094394 2012
255
Simultaneous fronto-orbital advancement and dynamic posterior cranial vault expansion in Apert syndrome. 38
22337402 2012
256
Brain and ventricular volume in patients with syndromic and complex craniosynostosis. 38
22011964 2012
257
Long-term evaluation of midface position after Le Fort III advancement: a 20-plus-year follow-up. 38
22186512 2012
258
Cranial suture biology: from pathways to patient care. 38
22337368 2012
259
Posterior cranial vault expansion performed with rapid distraction and time-reduced consolidation in infants with syndromic craniosynostosis. 38
21863295 2011
260
Assessment of white matter microstructural integrity in children with syndromic craniosynostosis: a diffusion-tensor imaging study. 38
21852568 2011
261
[Congenital anomalies in the central nervous system (11) Non-syndromic craniosynostosis]. 38
21972191 2011
262
Tracheobronchial anomalies in syndromic craniosynostosis with 3-dimensional CT image and bronchoscopy. 38
21959391 2011
263
Are ultrasonography measurements of optic nerve sheath diameter an alternative to funduscopy in children with syndromic craniosynostosis? 38
21882928 2011
264
Syndromic craniosynostosis in a modern-age skeleton from Siena, Italy. 38
21959423 2011
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Evaluation and management of nonsyndromic craniosynostosis. 38
21457300 2011
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Visual field loss in children with craniosynostosis. 38
21279364 2011
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[Congenital anomalies in the central nervous system. (9) Syndromic craniosynostosis]. 38
21799231 2011
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Dynamic total skull remodeling by a combination of morcellation craniotomy with distraction osteogenesis: the MoD procedure. 38
21772208 2011
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Craniosynostosis genetics: The mystery unfolds. 38
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Obstructive sleep apnea-specific quality of life and behavioral problems in children with syndromic craniosynostosis. 38
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Sleep-related disordered breathing in children with syndromic craniosynostosis. 38
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Endoscopic strip craniectomy in early infancy: the initial five years of anesthesia experience. 38
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Whole cranial vault expansion by continual occipital and fronto-orbital distraction in syndromic craniosynostosis. 38
21233733 2011
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Reliability and validity of the obstructive sleep apnea-18 survey in healthy children and children with syndromic craniosynostosis. 38
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Impact of long-term nasopharyngeal airway on health-related quality of life of children with obstructive sleep apnea caused by syndromic craniosynostosis. 38
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Health-related quality of life in children and adolescents with syndromic craniosynostosis. 38
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Genetic basis of potential therapeutic strategies for craniosynostosis. 38
21082653 2010
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Midfacial distraction using a transfacial pinning technique for syndromic craniosynostosis with obstructive respiratory disorders. 38
20347626 2010
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Treatment of sagittal synostosis: subtotal cranial vault remodelling with right-angled Z-osteotomies. 38
20060372 2010
280
Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile. 38
19913472 2010
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Meningoencephalocele: a late complication of Le Fort III midfacial advancement in a patient with Crouzon syndrome. 38
20887111 2010
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Intracranial and extracranial malformations in patients with craniofacial anomalies. 38
20818260 2010
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Use of ambulatory polysomnography in children with syndromic craniosynostosis. 38
20856022 2010
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Evaluation of three surgical techniques for advancement of the midface in growing children with syndromic craniosynostosis. 38
20811230 2010
285
A 10-year study of skeletal stability and growth of the midface following Le Fort III advancement in syndromic craniosynostosis. 38
20463620 2010
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Three-dimensional airway changes after Le Fort III advancement in syndromic craniosynostosis patients. 38
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Syndromic craniosynostosis: complicated airway obstruction calls for progressive strategies in surgical management. 38
20524914 2010
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Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis. 38
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Evaluation of maxillary permanent molars in patients with syndromic craniosynostosis after monobloc osteotomy and midface advancement with rigid external distraction (RED). 38
20210632 2010
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Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts. 38
20489451 2010
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Fetal constraint as a potential risk factor for craniosynostosis. 38
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Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. 38
20056390 2010
293
Effectiveness of skull models and surgical simulation: comparison of outcome between different surgical techniques in patients with isolated brachycephaly. 38
19575208 2009
294
A new case of syndromic craniosynostosis with cryptic 19p13.2-p13.13 deletion. 38
19842200 2009
295
Spring-assisted surgery-a surgeon's manual for the manufacture and utilization of springs in craniofacial surgery. 38
19881385 2009
296
Adenotonsillectomy for sleep-disordered breathing in children with syndromic craniosynostosis. 38
19881386 2009
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The assessment of midface distraction osteogenesis in treatment of upper airway obstruction. 38
19816368 2009
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Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis. 38
19624690 2009
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Reossification of cranium and zygomatic arch after monobloc frontofacial distraction advancement for syndromic craniosynostosis. 38
19816373 2009
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Medical treatment of craniosynostosis: recombinant Noggin inhibits coronal suture closure in the rat craniosynostosis model. 38
19627528 2009
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Airway changes following Le Fort III distraction osteogenesis for syndromic craniosynostosis: a clinical and cephalometric study. 38
19644279 2009
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Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. 38
19483581 2009
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Multi-directional Le Fort III midfacial distraction using an individual prefabricated device. 38
19157890 2009
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Ocular advancement in monobloc distraction. 38
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Evaluation of cephalometric points in midface bone lengthening with the use of a rigid external device in syndromic craniosynostosis patients. 38
19649491 2009
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Pyrexia after transcranial surgery for Pfeiffer syndrome. 38
19242364 2009
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Comparison of periodontal parameters in individuals with syndromic craniosynostosis. 38
19148400 2009
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[Multidisciplinary treatment for severe syndromic craniosynostosis]. 38
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Symptom outcomes following cranial vault expansion for craniosynostosis in children older than 2 years. 38
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310
Genetics of craniosynostosis: review of the literature. 38
20108486 2009
311
In vitro differentiation of human calvarial suture derived cells with and without dexamethasone does not induce in vivo-like expression. 38
18803234 2009
312
Comments to Esparza et al's article "Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases". 38
19112544 2008
313
Surgical treatment of isolated and syndromic craniosynostosis. Results and complications in 283 consecutive cases. 38
19112545 2008
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Abnormal venous drainage in syndromic craniosynostosis and the role of CT venography. 38
18575870 2008
315
Lateral orbital expansion and gradual fronto-orbital advancement: an option to treat severe syndromic craniosynostosis. 38
19098565 2008
316
Longitudinal assessment of visual development in non-syndromic craniosynostosis: a 1-year pre- and post-surgical study. 38
18463123 2008
317
Prevention and treatment of penicillin-resistant Streptococcus pneumoniae meningitis after intracraniofacial surgery with distraction osteogenesis. 38
19098547 2008
318
Craniosynostotic variations in syndromic, identical twins. 38
18724130 2008
319
Three-dimensional image analysis of facial skeletal changes after monobloc and bipartition distraction. 38
18594409 2008
320
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. 38
18456720 2008
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The role of the nasopharyngeal airway for obstructive sleep apnea in syndromic craniosynostosis. 38
18520380 2008
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Recurrence of synostosis following surgical repair of craniosynostosis. 38
18317088 2008
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Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors. 38
18216676 2008
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Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. 38
18391498 2008
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Clinical features of syndromic craniosynostosis. 38
18391497 2008
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Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts. 38
18391499 2008
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Unravelling the molecular control of calvarial suture fusion in children with craniosynostosis. 38
18076769 2007
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The intracranial pressure of the patients with mild form of craniosynostosis. 38
17680250 2007
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Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. 38
18000908 2007
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Midterm follow-up of midface distraction for syndromic craniosynostosis: a clinical and cephalometric study. 38
18040197 2007
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Genetics of craniosynostosis. 38
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Visual function in infants with non-syndromic craniosynostosis. 38
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Genetic analysis of non-syndromic craniosynostosis. 38
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Syndromic craniosynostosis: from history to hydrogen bonds. 38
17552943 2007
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Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. 38
17343269 2007
336
Extracellular matrix and growth factors in the pathogenesis of some craniofacial malformations. 38
17703601 2007
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The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT. 38
17105336 2006
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Le Fort III midfacial distraction using an internal distraction device for syndromic craniosynostosis: device selection, problems, indications, and a proposal for use of a parallel bar for device-setting. 38
17119404 2006
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Strabismus in craniosynostosis. 38
16932059 2006
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Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methods. 38
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Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. 38
16955501 2006
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Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. 38
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Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region. 38
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[Developmental aspects of oral language in craniosynostosis]. 38
16927627 2006
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Gradual distraction fronto-orbital advancement with 'floating forehead' for patients with syndromic craniosynostosis. 38
16770188 2006
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Pseudoclosure of anterior fontanelle by wormian bone in isolated sagittal craniosynostosis. 38
16636612 2006
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Oral health status of children with syndromic craniosynostosis. 38
16961025 2006
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Syndromic craniosynostosis with elbow joint contracture. 38
16465081 2006
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Sleep disturbances detected by a sleep apnea monitor in craniofacial surgical patients. 38
16432406 2006
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Hydrocephalus in craniosynostosis: a review. 38
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Chiari malformation in craniosynostosis. 38
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Craniosynostosis anomalies in twins. 38
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Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment. 38
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Surgical site infections after pediatric intracranial surgery for craniofacial malformations: frequency and risk factors. 38
15792512 2005
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The role of cranial expansion for craniocephalic disproportion. 38
15942275 2005
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Craniosynostosis syndromes in the genomic era. 38
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Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2. 38
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Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension. 38
15547395 2004
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Hybrid of distraction osteogenesis unilateral frontal distraction and supraorbital reshaping in correction of unilateral coronal synostosis. 38
15547381 2004
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Monobloc distraction osteogenesis in pediatric patients with severe syndromal craniosynostosis. 38
15547389 2004
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Airway considerations in craniofacial patients. 38
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Seesaw modification of the lateral orbital wall in Le Fort III osteotomy. 38
15516159 2004
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A reflectable case of obstructive sleep apnea in an infant with Crouzon syndrome. 38
15346037 2004
364
Progressive postnatal craniosynostosis and increased intracranial pressure. 38
15060342 2004
365
Prolonged intracranial pressure (ICP) monitoring in non-traumatic pediatric neurosurgical diseases. 38
15039654 2004
366
Salvaged Le Fort II halo distraction for an unfavorable outcome of midfacial distraction using an internal device in syndromic craniosynostosis. 38
15083024 2004
367
Anesthetic concerns of external maxillary distraction osteogenesis. 38
14704568 2004
368
The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 38
14564217 2003
369
Reoperation for Chiari malformations. 38
12944696 2003
370
Effects of a child with a craniofacial anomaly on stability of the parental relationship. 38
14501333 2003
371
Fibroblast growth factors lead to increased Msx2 expression and fusion in calvarial sutures. 38
12674336 2003
372
Dual midfacial distraction osteogenesis: Le Fort III minus I and Le Fort I for syndromic craniosynostosis. 38
12621171 2003
373
[Diagnosis and therapy of syndromic and non-syndromic craniosynostosis]. 38
12627247 2003
374
The jugular foramen in complex and syndromic craniosynostosis and its relationship to raised intracranial pressure. 38
12533326 2003
375
Clinical findings precede objective diagnostic testing in the identification of increased ICP in syndromic craniosynostosis. 38
12218797 2002
376
Genetic and environmental risk factors for sagittal craniosynostosis. 38
12218784 2002
377
Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions. 38
11994576 2002
378
Management of syndromic craniosynostosis. 38
12087863 2002
379
LeFort III internal distraction in syndromic craniosynostosis. 38
12000884 2002
380
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 38
11781872 2002
381
A child with Saethre-Chotzen syndrome, sensorineural hearing loss, and a TWIST mutation. 38
11772178 2002
382
Correction of a deformed thumb by distraction of the phalanx. 38
12564817 2002
383
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis. 38
11711827 2001
384
Neurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis. 38
11711916 2001
385
Surgical program for craniosynostosis using three-dimensional solid model, combined with autologous blood transfusion in a Japanese craniofacial unit. 38
11572255 2001
386
Internal Le Fort III distraction with biodegradable devices. 38
11358101 2001
387
Inhibition of apoptosis: a potential mechanism for syndromic craniosynostosis. 38
11214058 2001
388
Distraction osteogenesis of the craniofacial skeleton. 38
11176641 2001
389
Somatic mutations of fibroblast growth factor receptor 3 (FGFR3) are uncommon in carcinomas of the uterine cervix. 38
11114733 2000
390
Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. 38
11039354 2000
391
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? 38
10951518 2000
392
Internal craniofacial distraction with biodegradable devices: early stabilization and protected bone regeneration. 38
11314384 2000
393
[Spiral CT evaluation of the craniosynostoses]. 38
10970965 2000
394
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis. 38
10914960 2000
395
Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis. 38
10545072 1999
396
Airway obstruction in severe syndromic craniosynostosis. 38
10490176 1999
397
Prospective anthropometric analysis of sagittal orbital-globe relationship following fronto-orbital advancement in childhood. 38
10190429 1999
398
Midface distraction. 38
10371941 1999
399
Clinical spectrum of fibroblast growth factor receptor mutations. 38
10425034 1999
400
FGFR-Related Craniosynostosis Syndromes 38
20301628 1998
401
The elbow in syndromic craniosynostosis. 38
9693548 1998
402
[Cranial development after corrective skull surgery in craniosynostosis]. 38
9658820 1998
403
[Cranial development and growth following treatment of craniosynostosis skull deformities]. 38
23526014 1998
404
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. 38
9502772 1998
405
Hydrocephalus and craniosynostosis. 38
9452225 1998
406
Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation. 38
9442505 1998
407
A longitudinal, statistical study of reoperation rates in craniosynostosis. 38
9252595 1997
408
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 38
9279764 1997
409
Consequences of cranial vault expansion surgery for craniosynostosis. 38
9485157 1997
410
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 38
9042914 1997
411
Upper airway obstruction and raised intracranial pressure in children with craniosynostosis. 38
9042634 1997
412
Anomalous venous drainage in a case of non-syndromic craniosynostosis. 38
9105746 1997
413
[Anesthesia and intensive care of craniostenosis and craniofacial dysmorphism in children]. 38
9686076 1997
414
Component bone marker displacements revealed by image-corrected cephalometric analysis. A lateral cephalometric study of the cranium in normal and craniosynostosis--an implant study. 38
9118126 1996
415
The role of bone centers in the pathogenesis of craniosynostosis: an embryologic approach using CT measurements in isolated craniosynostosis and Apert and Crouzon syndromes. 38
8657773 1996
416
Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis. 38
8873162 1996
417
The molecular pathology of syndromic craniosynostosis. 38
9415192 1995
418
Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management. 38
7648567 1995
419
Hydrocephalus in craniosynostosis. 38
3242797 1988

Variations for Syndromic Craniosynostosis

Expression for Syndromic Craniosynostosis

Search GEO for disease gene expression data for Syndromic Craniosynostosis.

Pathways for Syndromic Craniosynostosis

Pathways related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(showing 27, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 SPP1 FGFR3 FGFR2 FGFR1
2
Show member pathways
12.69 SPP1 FGFR3 FGFR2 FGFR1
3
Show member pathways
12.27 FGFR3 FGFR2 FGFR1
4
Show member pathways
12.2 FGFR3 FGFR2 FGFR1
5
Show member pathways
12.19 FGFR3 FGFR2 FGFR1
6
Show member pathways
12.15 FGFR3 FGFR2 FGFR1
7
Show member pathways
12.14 FGFR3 FGFR2 FGFR1
8
Show member pathways
12.01 FGFR3 FGFR2 FGFR1
9
Show member pathways
11.97 FGFR3 FGFR2 FGFR1
10
Show member pathways
11.94 FGFR3 FGFR2 FGFR1
11 11.87 FGFR3 FGFR2 FGFR1
12
Show member pathways
11.87 FGFR3 FGFR2 FGFR1
13 11.8 FGFR3 FGFR2 FGFR1
14 11.76 FGFR3 FGFR2 FGFR1
15 11.53 FGFR3 FGFR2 FGFR1
16 11.38 FGFR3 FGFR2 FGFR1
17 11.31 TWIST1 RUNX2
18 11.27 SPP1 RUNX2 FGFR3 FGFR1
19 11.26 SPP1 RUNX2
20 11.16 SPP1 RUNX2
21 11.15 FGFR3 FGFR2 FGFR1
22 11.15 FGFR3 FGFR2 FGFR1
23 11.07 FGFR3 FGFR2 FGFR1
24 11.03 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
25 10.93 SPP1 RUNX2 FGFR2 FGFR1
26 10.8 FGFR3 FGFR2 FGFR1
27 10.73 SPP1 FGFR3 FGFR2 FGFR1

GO Terms for Syndromic Craniosynostosis

Cellular components related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 FGFR3 FGFR2 FGFR1

Biological processes related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(showing 48, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.97 RUNX2 FGFR3 FGFR2 FGFR1
2 MAPK cascade GO:0000165 9.86 FGFR3 FGFR2 FGFR1
3 in utero embryonic development GO:0001701 9.86 TWIST1 FGFR2 FGFR1
4 peptidyl-tyrosine phosphorylation GO:0018108 9.83 FGFR3 FGFR2 FGFR1
5 protein autophosphorylation GO:0046777 9.83 FGFR3 FGFR2 FGFR1
6 positive regulation of protein kinase B signaling GO:0051897 9.83 FGFR3 FGFR2 FGFR1
7 skeletal system development GO:0001501 9.82 RUNX2 FGFR3 FGFR1
8 positive regulation of MAPK cascade GO:0043410 9.81 FGFR3 FGFR2 FGFR1
9 ossification GO:0001503 9.78 TWIST1 RUNX2 MSX2
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.76 FGFR3 FGFR2 FGFR1
11 embryonic digit morphogenesis GO:0042733 9.72 TWIST1 MSX2 IFT122
12 embryonic limb morphogenesis GO:0030326 9.71 TWIST1 MSX2 FGFR1
13 ureteric bud development GO:0001657 9.7 FGFR2 FGFR1
14 bone mineralization GO:0030282 9.7 FGFR3 FGFR2
15 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 FGFR3 FGFR2
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.7 FGFR2 FGFR1
17 midbrain development GO:0030901 9.69 FGFR2 FGFR1
18 cell maturation GO:0048469 9.69 RUNX2 FGFR1
19 stem cell differentiation GO:0048863 9.68 RUNX2 MSX2
20 outflow tract septum morphogenesis GO:0003148 9.68 MSX2 FGFR2
21 embryonic hindlimb morphogenesis GO:0035116 9.68 TWIST1 MSX2
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR2 FGFR1
23 endochondral ossification GO:0001958 9.67 RUNX2 FGFR3
24 skeletal system morphogenesis GO:0048705 9.67 RUNX2 FGFR2 FGFR1
25 negative regulation of smoothened signaling pathway GO:0045879 9.66 RUNX2 IFT122
26 osteoblast development GO:0002076 9.65 RUNX2 MSX2
27 chondrocyte differentiation GO:0002062 9.65 RUNX2 FGFR3 FGFR1
28 chondrocyte development GO:0002063 9.64 RUNX2 MSX2
29 regulation of osteoblast differentiation GO:0045667 9.63 RUNX2 FGFR2
30 embryonic cranial skeleton morphogenesis GO:0048701 9.63 TWIST1 RUNX2 FGFR2
31 branching involved in salivary gland morphogenesis GO:0060445 9.62 FGFR2 FGFR1
32 mesenchymal cell differentiation GO:0048762 9.62 FGFR2 FGFR1
33 osteoblast differentiation GO:0001649 9.62 TWIST1 SPP1 RUNX2 MSX2
34 odontogenesis GO:0042476 9.61 TWIST1 MSX2 FGFR2
35 outer ear morphogenesis GO:0042473 9.6 TWIST1 FGFR1
36 lung-associated mesenchyme development GO:0060484 9.59 FGFR2 FGFR1
37 bone morphogenesis GO:0060349 9.58 MSX2 FGFR3 FGFR2
38 cranial suture morphogenesis GO:0060363 9.57 TWIST1 MSX2
39 negative regulation of apoptotic process GO:0043066 9.56 TWIST1 MSX2
40 cell differentiation GO:0030154 9.56 TWIST1 SPP1 RUNX2 ERF
41 orbitofrontal cortex development GO:0021769 9.52 FGFR2 FGFR1
42 ventricular zone neuroblast division GO:0021847 9.51 FGFR2 FGFR1
43 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.37 FGFR2 FGFR1
44 positive regulation of phospholipase activity GO:0010518 9.33 FGFR3 FGFR2 FGFR1
45 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.27 RUNX2
46 endochondral bone growth GO:0003416 9.13 MSX2 FGFR3 FGFR2
47 embryonic forelimb morphogenesis GO:0035115 8.92 TWIST1 RUNX2 MSX2 IFT122
48 negative regulation of transcription by RNA polymerase II GO:0000122 10.01 TWIST1 MSX2 FGFR2 FGFR1 ERF

Molecular functions related to Syndromic Craniosynostosis according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 SMC1A RUNX2 FGFR3 FGFR2 FGFR1
2 nucleotide binding GO:0000166 9.56 SMC1A FGFR3 FGFR2 FGFR1
3 protein tyrosine kinase activity GO:0004713 9.5 FGFR3 FGFR2 FGFR1
4 bHLH transcription factor binding GO:0043425 9.37 TWIST1 RUNX2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.33 FGFR3 FGFR2 FGFR1
6 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
7 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Syndromic Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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