Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family.

Cleidocranial dysplasia syndrome (CCD) is a rare autosomal dominant disease with wide range of variability. Dentists are often the first to encounter the CCD patients, some of whom do not show typical manifestations. Thus, dentists should be fully familiar with clinical manifestations and gene mutation. A 16-year-old girl was admitted for orthodontic treatment because of space in the dental arch and teeth irregularity. The introcession on the forehead and occiput suggests that she was a CCD patient. Clinical, radiological and genetic examinations were carried out in this girl and her family members and results showed delayed closure of the fontanel, hypoplastic clavicles and tooth anomalies of the girl and her mother. Genetic analysis revealed a 884C deletion in the exon 5 of the CBFA1/RUNX2 gene, which has never been reported in China. In this reported, the manifestations, diagnostic process and treatment of CCD were introduced according to the experience on the diagnosis of CCD in this family.