Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key

Correspondence to Professor Neeta Mohanty; neetamohanty@soa.ac.in Description Marie-Sainton syndrome or cleidocranial dysplasia is a rare, autosomal dominant skeletal disorder (OMIM number 119600) caused by a mutation in the RUNX2 (CBFA1) gene encoding a runt-related transcription factor required in the differentiation of osteoblasts and chondrocytes.1 The affected patients have a short stature, skull deformity, mid-face hypoplasia, clavicular hypoplasia, delayed tooth eruption and multiple impacted supernumerary teeth.2 The skull abnormalities are characterised by patent fontanels or with delayed closure, open sutures and the presence of multiple Wormian bones.1 Root resorption is delayed in the primary dentition; hence there is retention of deciduous teeth. There is pseudo-mandibular prognathism, non-union of symphysis menti in children, reduced facial height, high arched palate and malocclusion owing to a hypoplastic maxilla.3 Rarely even supernumerary teeth are not seen with this condition due to a a missense mutation p.R131C (c.391C>T) in the RUNX2 gene.4 When the disorder is detected early, then the extraction of the retained deciduous teeth, along with surgical exposure and subsequent orthodontic movement of the permanent teeth, could be attempted, ensuring a better quality of life.3 A 20-year-old female patient reported with the complaint of missing teeth. Skull radiographs showing widened cranial sutures with Wormian bones, frontal bossing and mid-face hypoplasia (A,B), hypoplasia of the clavicles bilaterally on chest radiograph (C) and multiple impacted teeth, and over-retained deciduous teeth on panoramic radiograph (D).