刊名:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
出版年:2016
出版时间:March 2016
年:2016
卷:172
期:1
页码:64-66
全文大小:60K
ISSN:1552-4876
文摘
There is limited information available related to the gynecologic findings in Goltz syndrome. 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.