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Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes.

作者信息

Spranger S, Spranger M, Tasman A J, Reith W, Voigtländer T, Voigtländer V

机构信息

Institute of Human Genetics, University of Heidelberg, Germany.

出版信息

Am J Med Genet. 1997 Sep 5;71(4):397-400. doi: 10.1002/(sici)1096-8628(19970905)71:4<397::aid-ajmg5>3.0.co;2-r.

DOI:10.1002/(sici)1096-8628(19970905)71:4<397::aid-ajmg5>3.0.co;2-r
PMID:9286444
Abstract

Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in cranial MRI. We discuss possible differential diagnosis such as the Cockayne, SHORT and Berardinelli-Seip syndrome.

摘要

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