Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.

Article

Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2013

Gutiérrez-Amavizca B E, Juárez-Vázquez C I, Orozco-Castellanos R, Arnaud L, Macías-Gómez N M, Barros-Nuñez P

Abstract excerpt

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 megaloc...

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