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  • Title: Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.
    Author: Gutiérrez-Amavizca BE, Juárez-Vázquez CI, Orozco-Castellanos R, Arnaud L, Macías-Gómez NM, Barros-Nuñez P.
    Journal: Genet Couns; 2013; 24(2):185-91. PubMed ID: 24032289.
    Abstract:
    Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive congenital disorder that presents with megalocornea, mental retardation, hypotonia, and facial dysmorphism, among other signs. With the report of this new case, and after an extensive review of the literature, we attempt to delineate the Neuhauser syndrome phenotype.
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