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Journal of Oral Medicine, Oral Surgery, Oral Pathology and Oral Radiology


Cleidocranial Dysplasia- A Case Report


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Author Details: Akhilanand Chaurasia

Volume : 1

Issue : 4

Online ISSN : 2395-6194

Print ISSN : 2395-6186

Article First Page : 196

Article End Page : 206


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