Two new cases of Barraquer-Simons syndrome

被引：7

作者：

Ferrarini, A ^{[1
]}

Milani, D ^{[1
]}

Bottigelli, M ^{[1
]}

Cagnoli, G ^{[1
]}

Selicorni, A ^{[1
]}

机构：

[1] Univ Milan, Dept Paediat, I-20122 Milan, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2004年 / 126A卷 / 04期

关键词：

Barraquer-Simons syndrome; partial lipodystrophy; cephalothoracic lipodystrophy;

D O I：

10.1002/ajmg.a.20623

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2003 Wiley-Liss, Inc.

引用

页码：427 / 429

页数：3

共 15 条

[1] CEPHALOTHORACIC LIPODYSTROPHY WITH HYPOCOMPLEMENTEMIC RENAL-DISEASE - DISCORDANCE IN IDENTICAL TWIN SISTERS [J].