A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: Another cause of male pseudohermaphroditism

Abstract

A new syndrome of incomplete development of the external genitals combined with a distinctive array of facial and skeletal anomalies has been recently identified by Smith and associates 1 in 4 male children, 2 of them siblings. The syndrome includes fetal hypoactivity, breech presentation, intrauterine growth retardation, failure to thrive postnatally, mental deficiency, blepharoptosis, short nose with anteverted nares, broad maxillary alveolus, micrognathia, incompletely masculinized genitals, simian palmar creases, metatarsus adductus, and pedal syndactyly. We have observed 2 additional affected infant siblings, 1 of whom was a female. She had normal external genitals and is presumably the first recognized female with the syndrome. In the absence of a known teratogenic agent, and despite the lack of consanguinity, the finding of a second pair of affected siblings suggests a genetic etiology. An autosomal recessive mode of inheritance with male-limited expression of the genital anomaly is probable.