Marie-sainton Syndrome Through the Lens of CBCT: A Rare Case Report and Literature Review

Marie-Sainton Syndrome (MSS), also known as Cleidocranial Dysplasia (CCD), is a rare autosomal dominant skeletal disorder primarily caused by mutations in the RUNX2 gene, which is essential for osteoblast differentiation and skeletal morphogenesis. The syndrome is characterised by generalised skeletal dysplasia, including hypoplastic or absent clavicles, delayed ossification of cranial sutures, and short stature. Distinct craniofacial features such as frontal and parietal bossing, midface hypoplasia, and brachycephaly are commonly observed. Dental anomalies are among the most prominent clinical signs and include delayed exfoliation of primary teeth, delayed or failed eruption of permanent teeth, and the presence of multiple supernumerary teeth. This report describes the case of a 13-year-old female presenting with retained primary teeth, delayed eruption of permanent teeth, and characteristic craniofacial features consistent with MSS. Clinical examination revealed frontal bossing, midface retrusion, and a high-arched palate. Cone-beam Computed Tomography (CBCT) was performed, revealing multiple unerupted permanent teeth and six supernumerary teeth distributed across all four quadrants. In addition, CBCT imaging identified other skeletal anomalies not clearly evident on conventional panoramic radiographs. This case highlights the critical role of CBCT in the comprehensive assessment and treatment planning of patients with MSS. Its ability to provide high-resolution, three-dimensional visualisation enables more accurate localisation of impacted and supernumerary teeth, aiding in surgical and orthodontic management. Early diagnosis and interdisciplinary care are essential to mitigate functional and aesthetic complications associated with this complex syndrome.