Stickler's syndrome. A report of a family.
Stickler's syndrome is an autosomal dominant condition characterised by degenerative eye and joint diseases. The eye disorders frequently lead to blindness from retinal detachments and there is often associated hearing loss. The condition has not previously been reported in the RSA. Five patients in a family spanning two generations are described.
Hill
J C
JC
Department of Ophthalmology, University of Cape Town, Groote Schuur Hospital.
Nelson
M M
MM
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics; D008297:Male; D010375:Pedigree; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome; D014822:Vitreous Body / Q000473:pathology