Introducing a Case of Aarskog-Scott Syndrome

Abstract

1 Sarem Fertility and Infertility Research Center (SAFIR), Sarem Women’s Hospital, Iran University of Medical Science (IUMS), Tehran, Iran 2 York University, Toronto, Canada Introduction: Aarskog-Scott syndrome is a rare X-linked disorder, charecterized by facial, skeletal and genital anomalies. It is also known as faciogenital dysplasia (FGDY, OMIM NO:305400) and facio-digito-genital syndrome. Patient Information: 7 years old boy with the same features, whom had been referred for genetic counseling, diagnosis, knowing the recurrence risk and seeking advice. Conclusion: The main features are short stature, hypertelorism, short hands and feet, and shawl scrotum.