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

Publikation

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

Wissenschaftlicher Artikel/Review - 05.09.1997

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

Bereiche

Hals-Nasen-Ohrenklinik

PubMed

9286444

Zitation

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.

Art

Wissenschaftlicher Artikel/Review (Englisch)

Zeitschrift

American journal of medical genetics 1997; 71

Veröffentlichungsdatum

05.09.1997

ISSN (Druck)

0148-7299

Seiten

397-400

Kurzbeschreibung/Zielsetzung

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.