Stickler's syndrome: a study of 12 families.
نویسنده
چکیده
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.
منابع مشابه
Hearing loss in Stickler's syndrome: a family case study.
Stickler's syndrome is an autosomal dominant hereditary condition that presents with pathognomonic facial features, dysplasia, myopia and auditory deficits. This paper describes the auditory history of a family with Stickler's syndrome. Given the expressive variability, a complete audiologic and otologic evaluation is encouraged when Stickler's syndrome is suspected.
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A large family with Wagner's vitreoretinal degeneration but none of the non-ocular features of Stickler's syndrome has been studied with gene probes for type II coliagen. Recombination has been observed, thus excluding type II collagen as the site of mutation in this family. This report supports other published evidence that the WagnerStickler syndrome is genetically heterogeneous. In 1938, Wag...
متن کاملStickler's syndrome and neovascular glaucoma.
Wagner (1938) described a Swiss family with dominantly inherited vitreoretinal degeneration, and von Bohringer et al. (1960) re-examined the family, adding further members. The characteristic findings which Wagner described were an optically empty vitreous with peripheral avascular membranes, peripheral visual field constriction, narrowing and sheathing of the peripheral retinal arteries with p...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 71 7 شماره
صفحات -
تاریخ انتشار 1987