Fraccaro syndrome: Report of a case diagnosed in an infant from Iran

Abstract

A 9-month-old boy with psychomotor retardation, micropenis, bifid scrotum, small right testis and left cryptorchidism is reported. Presence of 3 barr bodies in buccal smear and 49 XXXXY pattern in karyotype confirmed the diagnosis of fraccaro syndrome. This is the second case of fraccaro syndrome reported in an infant from Iran.