Cleidocranial Dysplasia- A Case Report

---

Author Details : Akhilanand Chaurasia

Volume : 1, Issue : 4, Year : 2015

Article Page : 196-206

Suggest article by email

Get Permission

---

Abstract

Cleidocranial dysplasia is a rare congenital disease. It is characterized by autosomal dominant inheritance pattern which is caused due to mutations in the Cbfa1 gene (Runx2) located on chromosome 6p21. It primarily affects bones which are formedby intra-membranous ossification and have equal sex distribution. It is also known as Marie and Sainton disease, Mutational dysostosis and cleidocranialdysostosis. The skeletal deformities of cleidocranial dysplasia are characterized by partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. This rare syndrome is of utmost importance in dentistry due to presence of multiple supernumerary teeth, facial bones deformities and deranged eruption patterns. We are reporting a classical case of cleidocranial dysplasia in 20 year old patient.

Keywords: Cleidocranial dysplasia, Marie and Sainton disease, Mutational dysostosis, Cleidocranialdysostosis, Autosomal dominant

How to cite : Chaurasia A, Cleidocranial Dysplasia- A Case Report. J Oral Med Oral Surg Oral Pathol Oral Radiol 2015;1(4):196-206

This is an Open Access (OA) journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.