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CASE REPORT
Clinical and radiological findings in a severe case of cleidocranial dysplasia
  1. Priti P Lotlikar,
  2. Adriana G Creanga,
  3. Steven R Singer
  1. Division of Oral and Maxillofacial Radiology, Department of Diagnostic Sciences, Rutgers School of Dental Medicine, Newark, New Jersey, USA
  1. Correspondence to Dr Priti P Lotlikar, ppl23{at}sdm.rutgers.edu

Summary

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.

  • radiology
  • dentistry and oral medicine
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Footnotes

  • Contributors PPL is the first author and has substantially contributed to the planning, conception and complete designing of the case report, and has worked on drafting and revising it critically for the significant content. PPL has performed an in-depth literature review. SRS contributed to reporting and interpretation of the radiographic images and final approval. AGC contributed to intrepretation of the CBCT image and provided the accurate numbers in the study.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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