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

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.