Imaging in the diagnosis of a rare anomaly: Cleidocranial dysplasia

Abstract

Cleidocranial dysplasia (CCD) is a rare autosomal dominant and developmental anomaly of skeleton characterized by generalized dysplasia of the bones and teeth. CCD is caused by mutation of transcription factor RuNx2, although 40% of the cases appear spontaneously with no apparent genetic cause. The disorder presents with partial or complete absence of clavicles, open anterior fontanelle, and cranial sutures, presence of multiple wormian bones, short stature, wide pubic symphysis, short middle phalanges of the 5 th finger, over retained deciduous teeth, multiple impacted permanent and supernumerary teeth and various other abnormalities. The frequency of this disorder is one/million individuals. Early diagnosis of CCD is essential for initiating the appropriate treatment approach. In confirmed cases, genetic counseling for family planning should certainly be advised. Because of its rarity, we report the classical case of CCD, with an emphasis on the importance of clinical and radiographic findings.