Cleidocranial dysplasia presenting with retained deciduous teeth in a 15-year-old girl: a case report

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• 作者：Nagarathna C (1)
  Bethur Siddaiah Shakuntala (1)
  Somy Mathew (1)
  Navin Hadadi Krishnamurthy (1)
  Ratna Yumkham (1)
  
• 刊名：Journal of Medical Case Reports
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：6
• 期：1
• 全文大小：561KB
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• 作者单位：Nagarathna C (1)
  Bethur Siddaiah Shakuntala (1)
  Somy Mathew (1)
  Navin Hadadi Krishnamurthy (1)
  Ratna Yumkham (1)
  
  1. Pedodontics and Preventive Dentistry, Rajarajeswari Dental College and Hospital, Bangalore, 560074, Karnataka, India
  

文摘

Introduction Cleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short arm of chromosome 6. It primarily affects bones which undergo intramembranous ossification. This condition is of clinical significance to dentistry due to the involvement of the facial bones, altered eruption patterns and multiple supernumerary teeth. Case presentation Our patient, a 15-year-old Indian girl, presented with the typical features of prolonged retention of deciduous dentition and delayed eruption of permanent teeth, that is, mandibular prognathism along with other skeletal abnormalities like shrugged shoulder and the absence of clavicles. A multidisciplinary approach was followed, comprising orthodontic, surgical and pedodontic teams for management. Conclusion Successful treatment of such a case lies in a holistic approach that takes care of all aspects, including the primary pathology, the deformity itself and even the psychological angle.