Familial occurrence of the G syndrome

Publisher Website
Google Scholar
Abstract
We report the familial occurrence of the G syndrome of multiple congenital anomalies affecting a mother and her three sons. All showed the characteristic syndromal facies, a low total ridge count, pronounced hypertelorism, and mild mental retardation, and severe dysphagia in infancy which improved with age but persisted in the boys (it has disappeared in the mother). One of the boys had a left cleft lip and cleft palate, another had a unilateral cleft lip. All boys had hypospadias: penile in two (with descended testes) and perineal in another (with cryptorchidism). Familial occurrence in this family is compatible with autosomal dominant inheritance.

This publication has 5 references indexed in Scilit: