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Orofaciodigital syndrome type IV: report of a patient
1Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
American Journal of Medical Genetics
|February 1, 1989
Abstract:
We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.