Gynecologic findings in Goltz syndrome: A case series

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• 作者：Oluyemisi A. Adeyemi-Fowode ; Roshanak Mansouri and Jennifer E. Dietrich
• 关键词：focal dermal hypoplasia ; Goltz ; Goltz&ndash ; Gorlin ; reproductive system ; gynecologic manifestations ; external genitalia
• 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.