Literature DB >> 12116258

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

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.

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Year:  2002        PMID: 12116258     DOI: 10.1002/ajmg.10433

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Authors:  Joris A Veltman; Yvonne Jonkers; Inge Nuijten; Irene Janssen; Walter van der Vliet; Erik Huys; Joris Vermeesch; Griet Van Buggenhout; Jean-Pierre Fryns; Ronald Admiraal; Paulien Terhal; Didier Lacombe; Ad Geurts van Kessel; Dominique Smeets; Eric F P M Schoenmakers; Conny M van Ravenswaaij-Arts
Journal:  Am J Hum Genet       Date:  2003-05-09       Impact factor: 11.025

2.  A new approach to the treatment of congenital vertical talus.

Authors:  Farhang Alaee; Stephanie Boehm; Matthew B Dobbs
Journal:  J Child Orthop       Date:  2007-08-01       Impact factor: 1.548

  2 in total

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