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.
Mégarbané
A
A
Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Souraty
N
N
Tamraz
J
J
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*