Cleidocranial dysplasia. A molecular and clinical review

Andrea Avendato, Francisco Cammarata-Scalisi, Mochamad Fahlevi Rizal, Sarworini B Budiardjo, Margaretha Suharsini Soetopo, Eva Fauziah, Nicola Maria Grande, Leonzi Fortunato, Gianluca Plotino, Izzet Yavuz, Michelle Callea

Research output: Contribution to journalArticle

Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt-related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases, leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review, we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.
Original languageEnglish
Pages (from-to)1-4
JournalInternational Dental Research
Volume8
Issue number1
Publication statusPublished - Feb 2018

Keywords

  • Cleidocranial dysplasia
  • RUNX2 gene
  • supernumerary teeth

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