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Gynecologic findings in Goltz syndrome: A case series
Author(s) -
AdeyemiFowode Oluyemisi A.,
Mansouri Roshanak,
Dietrich Jennifer E.
Publication year - 2016
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31477
Subject(s) - series (stratigraphy) , dermatology , medicine , biology , paleontology
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. © 2016 Wiley Periodicals, Inc.