Abstract
A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extermities, 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.
| Original language | English |
|---|---|
| Pages (from-to) | 739-742 |
| Number of pages | 4 |
| Journal | Acta Ophthalmologica |
| Volume | 68 |
| Issue number | 6 |
| Publication status | Published - 1990 |
Keywords
- Autosomal recessive
- Congenital cataract
- Hearing loss
- Hypercholesterolemia
ASJC Scopus subject areas
- Ophthalmology