| Literature DB >> 1219119 |
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.Entities:
Mesh:
Year: 1975 PMID: 1219119 PMCID: PMC1013319 DOI: 10.1136/jmg.12.4.397
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318