CLEIDOCRANIAL DYSPLASIA DIAGNOSIS: CASE REPORT

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology Vol. 129; no. 1; pp. e94 - e95
• Main Authors: SILVA, GEORGE VELOSO, DE ALMEIDA, INAMARI SOUZA, DE FRANÇA ROCHA, THAIS APARECIDA, DE CARVALHO, VIKTOR WGO PINTO, ISMERIM, ADNA BARROS, VIANA, ANA CARLA TEIXEIRA
• Format: Journal Article
• Language: English
• Published: Elsevier Inc 01.01.2020
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2019.06.396

Cleidocranial dysplasia is a rare syndrome that has as main clinical findings changes in bones of the neurocranium and viscerocranium, clavicular, and teeth, although it can affect other bones. Its etiology originates from a defect of the gene CBFA1 of chromosome 6 p21, whose function is the differentiation of osteoblasts. Evidence suggests that this gene also acts in the participation of odontoblasts differentiation. The main clinical alterations are short stature, enlarged head, prolonged retention of deciduous teeth, delayed eruption of permanents, and presence of innumerable supernumeraries. The objective of this study is to report the diagnosis of cleidocranial dysplasia in a 4-year-old female patient with light brown skin color in a family health unit. The main clinical findings were prominence of the frontal and parietal bosses, ocular hypertelorism, and depressed nasal bridge and shoulders with hypermobility. The imaging examinations showed clavicular hypoplasia and changes in tarsal bones without major abnormalities in facial radiograph.