Aarskog-Scott syndrome:Report of 7 cases and review of literature

ABSTRACT

Aarskog-Scott syndrome [ASS] is an X-linked disorder, characterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia [FGDY, OMIM No. 305400] and facio-digito-genital syndrome. The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum. We are reporting 7 cases with this syndrome that were referred to our genetic center from 1995 to 2006 for clinical genetic counseling and cytogenetic study. Key words Aarskog-Scott syndrome; Genes, X-linked