An extremely rare genetic variant of Pierre-Marie and Santon’s disease and orthodontic treatment options

Anand MARYA, Adith VENUGOPAL, Nikhilesh VAID

Introduction: Pierre-Marie and Santon’s disease, also commonly referred to as cleidocranial dysplasia, is a rare autosomal dominant genetic disorder. Objective: This manuscript describes an extremely rare variant of Pierre-Marie and Santon’s disease that has never been documented in the literature. Description: A 15-year-old patient, who was previously undiagnosed, reported to treatment with the chief complaint of missing teeth in the upper and lower dental arches. Clinical examination, 3D imaging and subsequent DNA analysis led to the diagnosis of this rare variant. Dental management of such cases are particularly important and should form an essential part of their clinical assessment. Conclusion: A multi-disciplinary team must carry out the management in order to obtain the best possible results. Cleidocranial dysplasia is a rare disorder with unique clinical findings in almost every patient, and must be studied to improve the quality of life of such patients.

Keywords: Cleidocranial dysplasia. Pierre-Marie and Santon’s disease. Syndrome. Genetic disorder. Orthodontics.

How to cite: Marya A, Venugopal A, Vaid N. An extremely rare genetic variant of Pierre-Marie and Santon’s disease and orthodontic treatment options. Clin Orthod. 2022 Apr-May;21(2):86-94.

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