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Article

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Medicina clinica - 3 Feb 2007

Martínez-Frías María Luisa, Cormier-Daire Valerie, Cohn Daniel H, Mendioroz Jacobo, Bermejo Eva, Mansilla Elena

Abstract excerpt

BACKGROUND AND OBJECTIVE: The Dyggve-Melchior-Clausen syndrome is a progressive spondyloepimetaphyseal dysplasia characterized by a short trunk dwarfism, barrel chest, sternal protrusion, kyphoscoliosis, severe platyspondyly, with a central constriction, irregular iliac wings with a lacy appearance, rhizomelic shortening of the limbs, microcephaly, coarse face, and variable mental retardation. This condition is...

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Source

Identifiers

PMID: 17288936
DOI: 10.1157/13098019

Genes

DYM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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