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.
Sugarman GI, Rimoin DL, Lachman RS. The Facial-Digital-Genital (Aarskog) Syndrome. Am J Dis Child. 1973;126(2):248-252. doi:10.1001/archpedi.1973.02110190218022