Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes.
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.
Spranger
S
S
Institute of Human Genetics, University of Heidelberg, Germany.
Spranger
M
M
Tasman
A J
AJ
Reith
W
W
Voigtländer
T
T
Voigtländer
V
V
D000328:Adult; D001921:Brain / Q000473:pathology; D003638:Deafness / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D005911:Gliosis; D006801:Humans; D007621:Karyotyping; D008060:Lipodystrophy / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D013577:Syndrome