In:
Journal of Pediatric Ophthalmology & Strabismus, SLACK, Inc., Vol. 27, No. 5 ( 1990-09), p. 265-267
Abstract:
ABSTRACT Stickler's syndrome is a much underdiagnosed entity in the ophthalmic population. It is a dominantly inherited disease of connective tissue whose ocular findings include moderate to severe myopia, vitreoretinal degeneration, retinal detachments, cataracts, and glaucoma. Non-ophthalmologic findings include cleft palate, midfacial hypoplasia (Figs 1-2), radiographic changes of spondyloepiphyseal dysplasia, narrow pelvis, and broad femoral neck. Twenty percent of patients with Stickler's syndrome will have a cleft palate. We undertook a study to determine the incidence of Stickler's syndrome in patients with an isolated cleft palate, and to see if this screening process would be useful in making an early diagnosis of the syndrome and in genetic counseling. It is important to distinguish this syndrome from that of isolated cleft palate in order to: 1) insure early detection of myopia and monitor for signs of retinal detachment, cataract, and glaucoma; and 2) provide definitive recurrence counseling for families (50% vs 2.3%).
Type of Medium:
Online Resource
ISSN:
0191-3913
,
1938-2405
DOI:
10.3928/0191-3913-19900901-12
Language:
English
Publisher:
SLACK, Inc.
Publication Date:
1990
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