Abstract
Objective: To report a case of Cleidocranial Dysplasia in order to help early diagnosis and prognosis of affected patients. Case Detail: full-term male child, who underwent 10 prenatal follow-up appointments. Healthy father, mother and brother. After delivery, the newborn was physically examined and it was not possible to palpate the clavicles and widen the fontanelles. He was referred for radiography, showing only the proximal third of the ossified right and left clavicles, and it was not possible to evaluate the middle and distal third, nor the secondary nucleus of humeral ossification and the scapular coracoid process bilaterally. In addition, there was a reduction in bone mineralization of the skullcap with widening of the fontanelles. Final considerations: Cleidocranial dysplasia (CHD) is an autosomal dominant inherited disease caused by a mutation in the RUNX2 gene, which encodes transcription to osteoblasts, and is essential for the cellular differentiation of osteoblasts and odontoblasts that are fundamental for the synthesis and bone tissue metabolism. Because it is a rare genetic anomaly, the earlier the diagnosis is made, the more effective will be the monitoring of the multidisciplinary team in meeting the needs of the patient with CHD and his family.