Abstract
IntroductionCleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the Cbfa1 gene, also called Runx2, located on the short arm of chromosome 6. It primarily affects bones which undergo intramembranous ossification. This condition is of clinical significance to dentistry due to the involvement of the facial bones, altered eruption patterns and multiple supernumerary teeth.Case presentationOur patient, a 15-year-old Indian girl, presented with the typical features of prolonged retention of deciduous dentition and delayed eruption of permanent teeth, that is, mandibular prognathism along with other skeletal abnormalities like shrugged shoulder and the absence of clavicles. A multidisciplinary approach was followed, comprising orthodontic, surgical and pedodontic teams for management.ConclusionSuccessful treatment of such a case lies in a holistic approach that takes care of all aspects, including the primary pathology, the deformity itself and even the psychological angle.
Highlights
Cleidocranial dysplasia is a rare congenital defect of autosomal dominant inheritance caused by mutations in the core binding factor alpha 1 (Cbfa1) gene, called Runx2, located on the short arm of chromosome 6
Successful treatment of such a case lies in a holistic approach that takes care of all aspects, including the primary pathology, the deformity itself and even the psychological angle
Cleidocranial dysplasia is a well defined clinical phenotype arising from deregulation of intramembranous and endochondral ossification due to a mutation in Cbfa1
Summary
Cleidocranial dysplasia is a rare congenital defect of autosomal dominance inheritance [1,2,3] that primarily affects bones which undergo intramembranous ossification It was first described by Marie and Sainton in 1898 [4]. Case presentation A 15-year-old Indian girl was referred to our Department of Pedodontics and Preventive Dentistry with the chief complaint of unerupted teeth Her medical history revealed delayed closure of the anterior fontanelle, a fracture of her right humerus at three years of age and delayed puberty. The posteroanterior view of a chest radiograph revealed the absence of clavicles (Figure 4) and a bell-shaped ribcage Based on these clinical and radiographic findings, a diagnosis of cleidocranial dysplasia was made. Under an aggressive oral hygiene maintenance program, our patient is followed-up periodically for further treatment
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