Gynecologic findings in Goltz syndrome: A case series

We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Some of our findings have been reported previously; however, some novel features including short perineum body not previously mentioned are noted as well. We recommend referral to a pediatric gynecologist for early evaluation of the reproductive tract as this can have an impact on the future fertility of these girls. © 2016 Wiley Periodicals, Inc.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fajmg.c.31477

Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 1, 2016 Category: Genetics & Stem Cells Authors: Oluyemisi A. Adeyemi‐Fowode, Roshanak Mansouri, Jennifer E. Dietrich Tags: Research Article Source Type: research