Two New Cases of Barraquer-Simons Syndrome

A. Ferrarini, D. Milani, M. Bottigelli, G. Cagnoli, Angelo Selicorni

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)427-429
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume126 A
Issue number4
Publication statusPublished - May 2004

Keywords

  • Barraquer-Simons syndrome
  • Cephalothoracic lipodystrophy
  • Partial lipodystrophy

ASJC Scopus subject areas

  • Genetics(clinical)

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