Hereditary hydrometrocolpos with polydactyly in infancy

An infant with hydrometrocolpos, secondary to vaginal atresia, and bilateral polydactyly, the product of unaffected first cousin parents, is presented. Autosomal recessive inheritance for hydrometrocolpos secondary to vaginal atresia is suggested by this case and by a previous report of two sibships...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1971-01, Vol.47 (1), p.138-141
Main Authors: Dungy, C I, Aptekar, R G, Cann, H M
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Child, Preschool
Consanguinity
Cysts - congenital
Dilatation - congenital
Female
Fingers - abnormalities
Genes, Recessive
Humans
Infant, Newborn
Male
Pedigree
Uterus - abnormalities
Vagina - abnormalities
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Summary:An infant with hydrometrocolpos, secondary to vaginal atresia, and bilateral polydactyly, the product of unaffected first cousin parents, is presented. Autosomal recessive inheritance for hydrometrocolpos secondary to vaginal atresia is suggested by this case and by a previous report of two sibships each with affected sisters and each issuing from consanguineous parents. A review of the literature reveals the association of hydrometrocolpos, secondary to vaginal atresia, with polydactyly in four additional cases. Early diagnosis and treatment of hydrometrocolpos is emphasized.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.47.1.138