Abstract
Cleidocranial dysplasia (CCD) is a rare dominantly inherited autosomal bone disease, characterized by delayed closure of fontanelles, presence of open skull sutures, hypoplastic or aplastic clavicles, supernumerary teeth, delayed eruption of permanent dentition, hypoplastic maxilla, wide pubic symphysis, short stature and a variety of other skeletal changes. Delayed closure of the anterior fontanelle and of metopic sutures results in frontal bossing. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt” related transcription factor 2(RUNX2). The phenotypic spectrum ranges from mildly affected individuals with dental abnormalities to severely affected patients with syringomyelia. An 18-year-old boy was referred to the Department of Prosthodontics, Faculty of Dental Sciences, SGT University with a chief complaint of multiple missing teeth. The patient was subsequently diagnosed with Cleidocranial dysplasia based on the clinical examination, panoramic X-ray, anterior-posterior & lateral cephalogram and chest radiograph findings. The case report presents the clinical and radiographic findings associated with CCD along with its prosthetic management.
Published Version
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