Cataract, hearing loss and hypercholesterolemia.
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.
Nucci
P
P
Department of Ophthalmology, University of Milan, Scientific Institute S. Raffaele Hospital, Italy.
Mets
M B
MB
D002386:Cataract / Q000151:congenital* / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D013577:Syndrome