Intractable Rare Dis Res. 2016;5(2):117-120. (DOI: 10.5582/irdr.2016.01022)

Cleidocranial dysplasia: A report of two cases with brief review.

Bharti K, Goswami M


Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia. The early diagnosis of the condition helps in proper orientation of the treatment thereby offering better quality of life to such patients.

KEYWORDS: Marie and Sainton's disease, CBF-1 gene, supernumerary teeth

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