ArticleFrontiers in medicine2026
Case Report: A novel variant in fibrillin-2 identified in a congenital contractural arachnodactyly family with phenotypic heterogeneity.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background and objectives: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder, and Case presentation: The proband exhibited the Marfanoid habitus with a height of 121 cm (> + 3 SD), a weight of 16 kg (-2 SD ∼-1 SD), arachnodactyly, and long bone overgrowth. He had joint contractures in the 2nd ∼ 5th fingers of bilateral hands and 2nd and 5th toes of the left foot. His mother and grandmother also presented arachnodactyly and arachnodactyly. They were confirmed to be affected with CCA. Results: A novel heterozygous missense variant in the exon 30 of Conclusion: We descripted a CCA family and identified a novel
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