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Article

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

American journal of medical genetics. Part A - 1 Feb 2014

Chung Brian H Y, Bradley Tim, Grosse-Wortmann Lars, Blaser Susan, Dirks Peter, Hinek Aleksander, Chitayat David

Abstract excerpt

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by hypertelorism, bifid uvula, cleft palate and arterial tortuosity. We report on a patient with LDS, bearing mutation in the TGFβR2 gene, whose prenatal examination demonstrated clenched fists and club feet, suggesting arthrogryposis multiplex congenita. Postnatal assessment showed digital abnormalities, including...

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PMID: 24194458
DOI: 10.1002/ajmg.a.36246

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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