1 |
Severe autosomal dominant upper-limb mesomelic dysplasia: report of a second family.
61
56
|
Megarbane A...Ghanem I
|
16283892 |
2005 |
2 |
Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias.
56
|
Fryns JP...van den Berghe H
|
3342548 |
1988 |
3 |
Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child.
61
|
Malik S...Afzal M
|
24381628 |
2013 |
4 |
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.
61
|
Jamsheer A...Latos-Bielenska A
|
23342975 |
2013 |
5 |
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
61
|
Patel C...Cox H
|
22333898 |
2012 |
6 |
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.
61
|
Quelin C...Gonzales M
|
22226660 |
2012 |
7 |
[Thalidomide (Contergan) induced limb deficiency in Hungary?].
61
|
Gidai J...Czeizel E
|
19497840 |
2009 |
8 |
Ulnar hypoplasia and neurofibromatosis type I.
61
|
Vargiami E...Bantouraki M
|
15580221 |
2004 |
9 |
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome.
61
|
Morava E...Mehes K
|
14564152 |
2003 |
10 |
Radiological findings in three cases of paraxial radial hemimelia in goats.
61
|
Corbera JA...Gutierrez C
|
12399612 |
2002 |
11 |
Proximal focal femoral deficiency, contralateral hip dysplasia in association with contralateral ulnar hypoplasia and clefthand: a case report and review of literatures of PFFD and/or FFU.
61
|
Kalaycioglu A...Aynaci O
|
11732209 |
2001 |
12 |
Overlap between Baller-Gerold and Rothmund-Thomson syndrome.
61
|
Megarbane A...Loiselet J
|
11045594 |
2000 |
13 |
Multiple congenital synostosis of the upper limb associated with ulnar hypoplasia and cleft hand. A case report.
61
|
Sahoo MM...Samal BK
|
8739706 |
1996 |
14 |
Bilateral ulna hypoplasia, club feet, and mental retardation: a new mesomelic syndrome.
61
|
Kohn G...Rimoin DL
|
7625433 |
1995 |
15 |
Peters' anomaly and associated congenital malformations.
61
|
Traboulsi EI...Maumenee IH
|
1463415 |
1992 |
16 |
Humero-radial synostosis with ulnar defects in sibs.
61
|
Ramer JC...Ladda RL
|
2669480 |
1989 |
17 |
Radial agenesis and ulnar hypoplasia in two caprine kids.
61
|
Baum KH...Weisbrode SE
|
3972675 |
1985 |
18 |
Constricted maxilla and mandible, scoliosis, bowed radii, ulnar hypoplasia, acromicria and microcephaly with mental retardation--a new autosomal recessive syndrome?
61
|
Cortada X...Matsumoto GM
|
7139102 |
1982 |
19 |
The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia.
61
|
Gonzalez CH...Opitz JM
|
890097 |
1977 |
20 |
Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
61
|
Cantu JM...Franco-Vazquez S
|
1218241 |
1975 |
21 |
[Fibulo-ulnar hypoplasia with spherical ankle joint, radiation defects and synostoses].
61
|
Henssge J...Engelke B
|
4245894 |
1970 |