A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

Patrick G. Brosnan, Ray C. Lewandowski, Allan G. Toguri, Andrew F. Payer, Walter J. Meyer

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Abstract

Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

Original languageEnglish (US)
Pages (from-to)586-590
Number of pages5
JournalThe Journal of Pediatrics
Volume97
Issue number4
DOIs
StatePublished - Oct 1980

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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