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.
Cataract, hearing loss and hypercholesterolemia / P. Nucci, M.B. Mets. - In: ACTA OPHTHALMOLOGICA. - ISSN 0001-639X. - 68:6(1990 Dec), pp. 739-742. [10.1111/j.1755-3768.1990.tb01705.x]
Cataract, hearing loss and hypercholesterolemia
P. NucciPrimo
;
1990
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.
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