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Article

Association between Kniest dysplasia and chondrosarcoma in a child.

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

Hochart Audrey, Dieux Anne, Coucke Paul, Fron Damien, Fayoux Pierre, Labalette Pierre, Boutry Nathalie, Escande Fabienne, Aubert Sébastien, Renaud Florence, Rocourt Nathalie, Vinchon Matthieu, Leblond Pierre

Abstract excerpt

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the...

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Identifiers

PMID: 26345137
DOI: 10.1002/ajmg.a.37361

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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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Association between Kniest dysplasia and chondrosarcoma in a child.PMID 26345137Read ↗

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Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.Semantic proximity Read ↗

The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.Semantic proximity Read ↗

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).Semantic proximity Read ↗

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A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.Semantic proximity Read ↗

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