Tibial Hemimelia in Langer-Giedion Syndrome With 8q23.1-q24.12 Interstitial Deletion

被引：9

作者：

Carvalho, Daniel Rocha ^{[1
,2
]}

Lima Santos, Savana Camilla ^{[1
]}

Valverde Oliveira, Maria Dulce ^{[1
]}

Speck-Martins, Carlos Eduardo ^{[1
]}

机构：

[1] SARAH Network Rehabil Hosp, Genet Unit, Brasilia, DF, Brazil

[2] Univ Brasilia, Sch Med, Postgrad Program Med Sci, Brasilia, DF, Brazil

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 11期

关键词：

Langer-Giedion syndrome; chromosome deletion; tibial hemimelia; absence of tibia; exostoses; 8Q;

D O I：

10.1002/ajmg.a.34233

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1-q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval. (C) 2011 Wiley Periodicals, Inc.

引用

页码：2784 / 2787

页数：4

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