title: Gynecologic findings in Goltz syndrome: A case series.
abstract: 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.
authors.forename: Oluyemisi A
authors.initials: OA
authors.lastname: Adeyemi-Fowode
authors.forename: Roshanak
authors.initials: R
authors.lastname: Mansouri
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dietrich
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D055815:Young Adult
keywords: Goltz; Goltz-Gorlin; external genitalia; focal dermal hypoplasia; gynecologic manifestations; reproductive system