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

doi:10.1016/S0022-3476(80)80013-8

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

Psychiatry and Behavioral Sciences

Research output: Contribution to journal › Article

13 Scopus citations

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 language	English (US)
Pages (from-to)	586-590
Number of pages	5
Journal	The Journal of Pediatrics
Volume	97
Issue number	4
DOIs	https://doi.org/10.1016/S0022-3476(80)80013-8
State	Published - Oct 1980

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ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

Brosnan, P. G., Lewandowski, R. C., Toguri, A. G., Payer, A. F., & Meyer, W. J. (1980). A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures. The Journal of Pediatrics, 97(4), 586-590. https://doi.org/10.1016/S0022-3476(80)80013-8

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10.1016/S0022-3476(80)80013-8