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Article

Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2015

Franceschi Roberto, Maines Evelina, Fedrizzi Michela, Piemontese Maria Rosaria, De Bonis Patrizia, Agarwal Nivedita, Bellizzi Maria, Di Palma Annunziata

Abstract excerpt

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features. CCD is caused by mutations, deletions or duplications in runt-related transcription factor 2 (RUNX2), which encodes for a protein essential for osteoblast differentiation and chondrocyte maturation. We describe three...

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Identifiers

PMID: 26286462
DOI: 10.1111/ped.12692

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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