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Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum
C T Schrander-Stumpel1, J B De Groot-Wijnands, C De Die-Smulders
1Department of Clinical Genetics, Academic hospital Maastricht, The Netherlands.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1993
Abstract:
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.