Autosomal dominant inheritance of the Aarskog syndrome

Abstract

Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X-linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex-influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported cases.