Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly.
We report on a boy with anophthalmia, split hand, oligodactyly, syndactyly and polydactyly: These features are consistent with the diagnosis of the ophthalmo-acromelic syndrome (Waardenburg). However, the hand anomalies have not been reported yet. This observation helps to extend the wide range of expressivity of this rare syndrome.
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
A
A
Mégarbané
N
N
Souraty
J
J
Tamraz
D000328:Adult; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D014849:Waardenburg Syndrome / Q000473:pathology*