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Article

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

American journal of medical genetics. Part A - 1 Oct 2013

Isidor Bertrand, Geffroy Loïc, de Courtivron Benoît, Le Caignec Cédric, Thiel Christian T, Mortier Geert, Cormier-Daire Valérie, David Albert, Toutain Annick

Abstract excerpt

We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). Both patients show normal birth length, early postnatal growth deficiency, severe short stature, flexion contractures in the hips, bowing of the legs with genu varum. Skeletal radiographies show platyspondyly and characteristic vertebral body shape with central indentation of endplates, progressive, and severe metaphyseal...

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Identifiers

PMID: 23956136
DOI: 10.1002/ajmg.a.36132

Genes

MATN3

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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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