Stickler's syndrome: a study of 12 families.
Stickler's syndrome is a congenital disease of connective tissue with considerable ocular and non-ocular lesions. This study reports 12 pedigrees (10 families and two isolated cases) and evaluates some peculiar ocular aspects not previously reported in the syndrome.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D003240:Connective Tissue Diseases / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics; D007905:Lens Diseases / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics; D010826:Physiognomy; D012164:Retinal Diseases / Q000235:genetics; D013577:Syndrome; D014822:Vitreous Body