Congenital anomalies of the female reproductive tract in a patient with Goltz syndrome.

Abstract Background Goltz syndrome, or focal dermal hypoplasia, is a rare congenital mesoectodermal syndrome. It is characterized primarily by extensive cutaneous and musculoskeletal defects. Case We report on a 17-year-old menarchal girl diagnosed with a severe form of Goltz syndrome who was referred to the Gynecology Division at the Children's Hospital Boston. A complete evaluation revealed a septate hymen, a normal vagina with a single cervix, a bicornuate uterus, and a unilateral kidney. To our knowledge, there have been no documented cases of congenital anomalies of the female reproductive tract in patients with Goltz syndrome. Conclusions The development of the female reproductive tract is a complex process involving all three embryonic cell layers. Female patients with multiple abnormalities of ectodermal and mesodermal origin warrant complete evaluations of their reproductive tracts.