A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

Abstract

A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal-recessive inheritance.