Gynecologic findings in Goltz syndrome: A case series

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; ho...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2016-03, Vol.172C (1), p.64-66
Main Authors: Adeyemi-Fowode, Oluyemisi A., Mansouri, Roshanak, Dietrich, Jennifer E.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
external genitalia
Female
Fertility
Focal dermal hypoplasia
Focal Dermal Hypoplasia - diagnosis
Focal Dermal Hypoplasia - genetics
Genetics
Genitalia
Genitalia - abnormalities
Girls
Goltz
Goltz-Gorlin
gynecologic manifestations
Humans
Hypoplasia
Infant
Male
Perineum
Phenotype
Reproductive system
Skin
Young Adult
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Summary: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.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31477