Cataract, hearing loss and hypercholesterolemia

Paolo Nucci; Marilyn B. Mets

doi:10.1111/j.1755-3768.1990.tb01705.x

Cataract, hearing loss and hypercholesterolemia

Paolo Nucci^*, Marilyn B. Mets

^*Corresponding author for this work

Ophthalmology

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Abstract. A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo‐auditory syndromes is presented. 1990 Institution Acta Ophthalmologica Scandinavica

Original language	English (US)
Pages (from-to)	739-742
Number of pages	4
Journal	Acta Ophthalmologica
Volume	68
Issue number	6
DOIs	https://doi.org/10.1111/j.1755-3768.1990.tb01705.x
State	Published - Dec 1990

Keywords

autosomal recessive
congenital cataract
hearing loss
hypercholesterolemia

ASJC Scopus subject areas

Ophthalmology

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10.1111/j.1755-3768.1990.tb01705.x

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title = "Cataract, hearing loss and hypercholesterolemia",

abstract = "Abstract. A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo‐auditory syndromes is presented. 1990 Institution Acta Ophthalmologica Scandinavica",

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author = "Paolo Nucci and Mets, {Marilyn B.}",

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AU - Nucci, Paolo

AU - Mets, Marilyn B.

PY - 1990/12

Y1 - 1990/12

N2 - Abstract. A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo‐auditory syndromes is presented. 1990 Institution Acta Ophthalmologica Scandinavica

AB - Abstract. A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo‐auditory syndromes is presented. 1990 Institution Acta Ophthalmologica Scandinavica

KW - autosomal recessive

KW - congenital cataract

KW - hearing loss

KW - hypercholesterolemia

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Cataract, hearing loss and hypercholesterolemia

Abstract

Keywords

ASJC Scopus subject areas

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