A school age child with cleidocraneal dysplasia: the importance of early diagnosis

Abstract Cleidocraneal dysplasia (CCD) is an infrequent autosomal dominant disease with high penetrance and variable expression characterized by open skull sutures, hypoplastic or aplastic clavicles and complex dental abnormalities. In this article we report a case of CCD in a school age child with a family history of hearing loss. The child was diagnosed due to the presentation of a macrocephalic and braquicephalic skull with large fontanelle, open sutures and hypertelorism at three months of age. On examination the shoulders have the ability to come together at the midline. Plain radiographs revealed hypoplastic clavicles. The early diagnosis is remarked to avoid unnecessary proceedings as overdosification of vitamin D. On the other hand it is recommended a multidisciplinary team to treat appropriately dental abnormalities. The overall goal is to provide an esthetical appearance of the face and to get a functional occlusion by late adolescence or young adulthood. Intelligence and life expectancy are normal with not serious complications. Key words: Cleidocraneal dysplasia, Hypoplastic clavicles, Dental abnormalities, Cranial abnormalities