| 268250 | |||||||||
| RHIZOMELIC SYNDROME | |||||||||
| Alternative titles; symbols | |||||||||
| RHIZOMELIC DYSPLASIA, FAMILIAL | |||||||||
| Clinical Synopsis | |||||||||
| TEXT | |||||||||
| Urbach et al. (1986) described an inbred Arab family in which 1 female and 2 male sibs had symmetric and striking rhizomelia of the arms and other abnormalities of the skeleton (short stature, dislocated hips, digitalization of thumb with bifid distal phalanx), craniofacial structures (microcephaly, large anterior fontanel, micrognathia), and heart (pulmonic stenosis). All 3 sibs died in early childhood. In the endogamous Malay community of Cape Town, Viljoen et al. (1987) observed rhizomelic dysplasia in 3 sibs and in a first cousin once removed. Of the 2 individuals examined, 1 had prominent shortening of the humeri and the other of the femora. Seen alone, these might have been considered unrelated disorders. Al Gazali and Al-Asaad (1995) suggested that the boy with short, clublike femur reported by Viljoen et al. (1987) actually had omodysplasia (258315). | |||||||||
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