Literature DB >> 15098243

Two new cases of Barraquer-Simons syndrome.

A Ferrarini1, D Milani, M Bottigelli, G Cagnoli, Angelo Selicorni.   

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. Copyright 2003 Wiley-Liss, Inc.

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Year:  2004        PMID: 15098243     DOI: 10.1002/ajmg.a.20623

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  4 in total

1.  Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.

Authors:  Robert A Hegele; Henian Cao; Dora M Liu; Gary A Costain; Valentine Charlton-Menys; N Wilson Rodger; Paul N Durrington
Journal:  Am J Hum Genet       Date:  2006-06-05       Impact factor: 11.025

2.  Lipotransfer provides effective soft tissue replacement for acquired partial lipodystrophy.

Authors:  Faith Hyun Kyung Jeon; Michelle Griffin; Carole Frosdick; Peter Edward Michael Butler
Journal:  BMJ Case Rep       Date:  2020-05-12

3.  Barraquer-Simons syndrome: a rare form of acquired lipodystrophy.

Authors:  Joana Oliveira; Paula Freitas; Eva Lau; Davide Carvalho
Journal:  BMC Res Notes       Date:  2016-03-18

4.  Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report.

Authors:  Jordi P Guallar; Ricardo Rojas-Garcia; Elena Garcia-Arumi; Joan C Domingo; Eduardo Gallardo; Antoni L Andreu; Pere Domingo; Isabel Illa; Marta Giralt; Francesc Villarroya
Journal:  J Med Case Rep       Date:  2008-08-27
  4 in total

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