Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

被引：6

作者：

Mehar, Virendra ^{[1
]}

Yadav, Dinesh ^{[1
]}

Kumar, Ravindra ^{[2
]}

Yadav, Summi ^{[3
]}

Singh, Kuldeep ^{[1
]}

Callewaert, Bert ^{[4
]}

Pathan, Shahnawaz ^{[1
]}

De Paepe, Anne ^{[4
]}

Coucke, Paul J. ^{[4
]}

机构：

[1] Sri Aurobindo Inst Med Sci, Dept Pediat, Div Neonatol, Indore, Madhya Pradesh, India

[2] Sri Aurobindo Inst Med Sci, Cent Res Lab, Indore, Madhya Pradesh, India

[3] Sri Aurobindo Inst Med Sci, Dept Gynaecol, Indore, Madhya Pradesh, India

[4] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

来源：

JOURNAL OF PEDIATRIC GENETICS | 2014年 / 3卷 / 03期

关键词：

Beals syndrome; congenital contractures; fibrillin-2; novel mutation;

D O I：

10.3233/PGE-14093

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly.

引用

页码：163 / 166

页数：4

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