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RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.
We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.
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