Stickler's Syndrome in the Cleft Palate Clinic
| Autor: | Patricia Borns, Stephen D Kronwith, Pam Onyx, Graham E. Quinn, Dwight Stambolian, Donato LaRossa, Elyce Cardonick, Elaine H. Zackai, Donna M. McDonald |
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| Rok vydání: | 1990 |
| Předmět: |
Male
Spondyloepiphyseal dysplasia Pediatrics medicine.medical_specialty Adolescent Eye Diseases genetic structures Genetic counseling Population Glaucoma Cataracts medicine Humans Child Connective Tissue Diseases education education.field_of_study Vitreoretinal degeneration business.industry Incidence Retinal detachment Syndrome General Medicine Pennsylvania medicine.disease eye diseases Hypoplasia Cleft Palate Radiography Ophthalmology Pediatrics Perinatology and Child Health Female sense organs business |
| Zdroj: | Journal of Pediatric Ophthalmology & Strabismus. 27:265-267 |
| ISSN: | 1938-2405 0191-3913 |
| DOI: | 10.3928/0191-3913-19900901-12 |
| Popis: | 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%). |
| Databáze: | OpenAIRE |
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