Cleidocranial Dysplasia: Keys to Diagnosis

Introduction: Cleido-cranial dysplasia (CCD) is a rare congenital disorder with an autosomal dominant inheritance. This disease is caused by mutations in the C10fa1, also called RUNX2. This gene mutation affects bones undergoing intramembranous ossification inducing hypoplasia/aplasia of clavicles, patent fontanels and short stature. Common features are bulky forehead, hypertelorism, midfacial hypoplasia and supernumerary teeth presence. Case Presentation: An 18-year-old male was referred to the removable partial denture department with a chief complaint of an ill-fitting upper and lower removable partial dentures. Dental anomalies included retention of temporary dentition, eruption delay of permanent teeth and supernumerary teeth genesis. Hereby, we report an accurate examination of a CCD case with an emphasis on the clinical and radiological features. Conclusion: Bony malformations, aplasia or hypoplasia of one or both clavicles and the presence of supernumerary teeth are the main features of cleidocranial dysplasia. Early diagnosis is essential for initiating the appropriate management.