Publication

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

Journal Paper/Review - Sep 5, 1997

Units
PubMed

Citation
Spranger S, Spranger M, Tasman A, Reith W, Voigtländer T, Voigtländer V. Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes. American journal of medical genetics 1997; 71:397-400.
Type
Journal Paper/Review (English)
Journal
American journal of medical genetics 1997; 71
Publication Date
Sep 5, 1997
Issn Print
0148-7299
Pages
397-400
Brief description/objective

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.