Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.

Abstract

The term 'popliteal pterygium syndrome' has been used to distinguish a constellation of congenital anomalies characterized by cleft palate, with or without cleft lip, lip pits, popliteal and other webs, toenail dysplasia, syndactyly, aplasia of the labia majora, and other anomalies. The syndrome may be associated with mental retardation. About 48 cases of this inherited syndrome have been re- ported in the literaturet since Trelat's first descrip- tion in 1869. The genetic pattern by which the popliteal pterygium syndrome is transmitted has however not yet been firmly established An additional family with this syndrome is reported.