August 1973

The Facial-Digital-Genital (Aarskog) Syndrome

Author Affiliations

Los Angeles
From the Division of Medical Genetics, departments of pediatrics and medicine (Dr. Rimoin), and radiology (Dr. Lachman), Harbor General Hospital, UCLA School of Medicine, Torrance, and the Department of Pediatrics, UCLA School of Medicine (Dr. Sugarman), Los Angeles.

Am J Dis Child. 1973;126(2):248-252. doi:10.1001/archpedi.1973.02110190218022

A Mexican-American family in which two half brothers and their two maternal uncles are affected with the facial-digital-genital (Aarskog) syndrome is described. This syndrome is characterized by short stature, peculiar facies, abnormalities of the hands and feet, and a saddle anomaly of the scrotum. An obligate heterozygote in this kindred was found to have the hand and foot anomalies characteristic of the affected members of her family. This syndrome appears to be inherited as an autosomal dominant trait with partial expression in women.