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Article

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

American journal of medical genetics. Part A - 1 Mar 2017

Machol Keren, Jain Mahim, Almannai Mohammed, Orand Thibault, Lu James T, Tran Alyssa, Chen Yuqing, Schlesinger Alan, Gibbs Richard, Bonafe Luisa, Campos-Xavier Ana Belinda, Unger Sheila, Superti-Furga Andrea, Lee Brendan H, Campeau Philippe M, Burrage Lindsay C

Abstract excerpt

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with...

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Identifiers

PMID: 27888646
DOI: 10.1002/ajmg.a.38059
PMCID: PMC5315610

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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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