DOI: 10.36347/sjmcr.2019.v07i03.004

Pages: 181-185

Cleidocranial dysplasia (CCD) is also known as Marie-Sainton disease. It is an Autosomal Dominant/Sporadic pattern(40%). It affects bones derived from both Intra membranous and Endochondral ossification.with skeletal dysplasia characterised by abnormal clavicles, Patent sutures and Frontanelles, supernumerary teeth and a variety of other skeletal abnormalities. It is rare with probable incidence of 1 in 100,0000.We report a rare case of Cleidocranial Dysplasia in a 7 year old male child born to 3rd degree consanguineous couple with negative family history probable sporadic inheritance presented with recurrent Upper respiratory tract infections and Short Stature and Dental abnormalities. On examination increased shoulder girdle mobility, Failure to dislodge deciduous teeth and depression over forehead and top of skull. Even though it is genetically associated but the diagnosis made by Clinical and Radiographic features. Molecular genetic testing such as sequence analysis and deletion analysis can be used in CCD. Treatment of these patients include a multi-disciplinary approach which include Paediatrician, Orthopaedic and Dental corrections along with Genetic counselling.