Familial Cleidocranial Dysplasia: A Case of Two Siblings

Abstract

Cleidocranial dysplasia (CCD) is a rare hereditary skeletal disorder affecting bones formed by intramembranous ossification. It is most commonly inherited in an autosomal dominant pattern and is associated with mutations in the RUNX2 (CBFA1) gene, which plays a critical role in osteoblast differentiation and skeletal development. Clinically, CCD is characterized by hypoplastic or absent clavicles, delayed closure of cranial sutures, and multiple dental abnormalities. Dental manifestations are often the most prominent features and include delayed exfoliation of primary teeth, delayed or failed eruption of permanent teeth, multiple impacted and supernumerary teeth, malocclusion, and maxillary hypoplasia. This case series reports two siblings diagnosed with cleidocranial dysplasia, highlighting familial occurrence and variability in clinical expression. Both patients presented with complaints of missing permanent teeth and retained deciduous teeth since childhood. Extraoral examination revealed characteristic craniofacial features, including depressed zygomatic arches and a concave facial profile suggestive of mandibular prognathism. Intraoral and radiographic evaluations revealed multiple impacted and supernumerary teeth, supporting the diagnosis of CCD. These cases emphasize the importance of thorough clinical and radiographic assessment in patients presenting with delayed tooth eruption and multiple missing teeth. Early recognition by dental professionals is crucial for timely multidisciplinary management and genetic counselling. Documentation of familial cases contributes to better understanding of the phenotypic spectrum of cleidocranial dysplasia and aids in improving diagnostic awareness.