Barraquer-Simons syndrome is a rare form of partial lipodystrophy, mainly characterized by loss of subcutaneous tissue, starting from the face and spreading to the upper part of the body. Occasional functional anomalies such as deafness, epilepsy, and mental retardation can be associated with the condition; nephropathy and myopathy have been observed occasionally. Here we report on two new sporadic cases, who show at the moment only a facial involvement, without any associated anomalies and/or medical complications.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - May 2004|
- Barraquer-Simons syndrome
- Cephalothoracic lipodystrophy
- Partial lipodystrophy
ASJC Scopus subject areas