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  • Title: Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?
    Author: Linssen WH, Van den Bent MJ, Brunner HG, Poels PJ.
    Journal: Am J Med Genet; 1994 May 15; 51(1):81-2. PubMed ID: 8030674.
    Abstract:
    We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome.
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