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Article

FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.

Connective tissue research - 1 May 2024

Yang Shulin, Li Zongzhe

Abstract excerpt

PURPOSE: Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in Marfan syndrome. It is imperative to conduct a...

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Identifiers

PMID: 38602424
DOI: 10.1080/03008207.2024.2340004

Genes

FBN2

Provenance

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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