| Literature DB >> 7064999 |
T E Kelly, H H Wells, K B Tuck.
Abstract
The Robin anomaly is a recognized presenting manifestation of the Stickler syndrome, an autosomal dominantly inherited disorder originally termed "hereditary progressive arthroophthalmopathy." We report an infant with the Robin anomaly, myopia and dumbbell-shaped femora and humeri in a family with the Stickler syndrome. This observation suggests that the Weissenbacher-Zweymüller syndrome is in fact a variant of the Stickler syndrome.Entities:
Mesh:
Year: 1982 PMID: 7064999 DOI: 10.1002/ajmg.1320110113
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299