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Article

Clinical, radiological, and auxological characteristics of patients with cleidocranial dysplasia followed in a pediatric referral hospital in Argentina.

Archivos argentinos de pediatria - 1 Aug 2018

Ramos Mejía Rosario, Rodríguez Celin Mercedes, Fano Virginia

Abstract excerpt

Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia caused by mutations in the RUNX2 gene; its prevalence has been estimated at 1/1 000 000 newborn infants. This study presents 37 patients (22 girls) assessed between 1992 and 2016 at the Skeletal Dysplasias Multidisciplinary Clinics of Hospital Garrahan, Argentina. FINDINGS: 35% of positive family history; median age at the time of diagnosis: 2.61...

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Source

Identifiers

PMID: 30016033
DOI: 10.5546/aap.2018.eng.e560

Genes

RUNX2

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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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