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

Publication

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

Journal Paper/Review - Sep 5, 1997

Spranger S, Spranger M, Tasman Abel-Jan, Reith W, Voigtländer T, Voigtländer V

Units

Hals-Nasen-Ohrenklinik

PubMed

9286444

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.