BARRAQUER-SIMONS-SYNDROME (WITH SENSORINEURAL DEAFNESS) - A CONTRIBUTION TO THE DIFFERENTIAL-DIAGNOSIS OF LIPODYSTROPHY SYNDROMES

Authors
SPRANGER S SPRANGER M TASMAN AJ REITH W VOIGTLANDER T VOIGTLANDER V
Citation
S. Spranger et al., BARRAQUER-SIMONS-SYNDROME (WITH SENSORINEURAL DEAFNESS) - A CONTRIBUTION TO THE DIFFERENTIAL-DIAGNOSIS OF LIPODYSTROPHY SYNDROMES, American journal of medical genetics, 71(4), 1997, pp. 397-400
Citations number
17
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
71
Issue
4
Year of publication
1997
Pages
397 - 400
Database
ISI
SICI code
0148-7299(1997)71:4<397:B(SD-A>2.0.ZU;2-9
Abstract
Among the lipodystrophies, the Barraquer-Simons syndrome is a rare con dition. We describe a 27-year-old woman with progressive loss of subcu taneous fat after 15 years first affecting the face and spreading to t he upper part of the body. She also suffered from deafness and had mar ked changes in cranial MRI. We discuss possible differential diagnosis such as the Cockayne, SHORT and Berardinelli-Seip syndrome. (C) 1997 Wiley-Liss, Inc.