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Article

Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.

American journal of medical genetics. Part A - 1 Oct 2015

Takeda Norifumi, Morita Hiroyuki, Fujita Daishi, Inuzuka Ryo, Taniguchi Yuki, Imai Yasushi, Hirata Yasunobu, Komuro Issei

Abstract excerpt

Congenital contractural arachnodactyly (CCA) is a connective tissue disease caused by mutations of the FBN2, which encodes fibrillin-2. CCA patients have a marfanoid habitus; however, aortic dilatation and/or dissection as observed in Marfan syndrome have been rarely documented. Here, we report on a Japanese familial case of CCA resulting from a FBN2 splicing mutation (IVS32+5g→a), which leads to exon 32 being...

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Source

Identifiers

PMID: 25975422
DOI: 10.1002/ajmg.a.37162

Genes

FBN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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