Aarskog syndrome: significance for the surgeon

A familial syndrome of short stature associated with facial dysplasia and congenital anomalies was reported by Aarskog in 1970. Subsequently, at least 53 patients in 13 affected families have been reported. The family to be described came under investigation following referral of one of the nine siblings to the surgical clinic at Childrens Hospital of Los Angeles for the evaluation of a right inguinal hernia. Recognition of the syndrome and further evaluation of the remaining siblings led to the diagnosis of several genital anomalies requiring surgical correction.