The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.
Open Access
- 1 December 1975
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 12 (4) , 397-400
- https://doi.org/10.1136/jmg.12.4.397
Abstract
The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.This publication has 7 references indexed in Scilit:
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- Wagner's Hereditary Vitreoretinal Degeneration and Retinal DetachmentArchives of Ophthalmology (1950), 1973
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- The Stickler SyndromeNew England Journal of Medicine, 1972
- [Hereditary arthro-ophthalmopathy].1968
- HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY1965