Clinical and radiological findings in a severe case of cleidocranial dysplasia

Priti P. Lotlikar, Adriana G. Creanga, Steven Singer

Research output: Contribution to journalArticle

Abstract

Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone. Patients with CCD show the classical features of excessive mobility of the shoulder bone, lack of resorption of the deciduous teeth, failure to erupt permanent teeth, multiple impacted and supernumerary teeth, and open fontanelle and sutures of the skull. In this article we report a case of CCD in a 16-year-old male patient, with an aim to highlight the clinical, radiological and recommended treatment guidelines.

Original languageEnglish (US)
JournalBMJ case reports
Volume2018
DOIs
StatePublished - Nov 12 2018

Fingerprint

Cleidocranial Dysplasia
Tooth
Impacted Tooth
Supernumerary Tooth
Bone and Bones
Clavicle
Chromosomes, Human, Pair 6
Deciduous Tooth
Bone Resorption
Skull
Sutures
Cartilage
Transcription Factors
Guidelines
Mutation

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Keywords

  • dentistry and oral medicine
  • radiology

Cite this

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Clinical and radiological findings in a severe case of cleidocranial dysplasia. / Lotlikar, Priti P.; Creanga, Adriana G.; Singer, Steven.

In: BMJ case reports, Vol. 2018, 12.11.2018.

Research output: Contribution to journalArticle

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