| Literature DB >> 12116258 |
Sophie Julia1, Jean Michel Pedespan, Philippe Boudard, Richard Barbier, Isabelle Gavilan-Cellie, Jean François Chateil, Didier Lacombe.
Abstract
In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. Copyright 2002 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2002 PMID: 12116258 DOI: 10.1002/ajmg.10433
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299