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; 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.
['Adeyemi-Fowode|Oluyemisi A|OA|', 'Mansouri|Roshanak|R|', 'Dietrich|Jennifer E|JE|']
D000293:Adolescent D000328:Adult D002648:Child D002675:Child, Preschool D005260:Female D005489:Focal Dermal Hypoplasia D005835:Genitalia D006801:Humans D007223:Infant D008297:Male D010641:Phenotype D055815:Young Adult
Goltz external genitalia focal dermal hypoplasia Goltz-Gorlin gynecologic manifestations reproductive system