INTRODUCTION: Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth. The patient showed incomplete development of cranial bones, bell-shaped thorax, adequate dentition and presence of clavicles. Molecular analysis reported that the patient is carrying the pathogenic variant c.674G>A in the RUNX2 gene, confirming the diagnosis. CONCLUSIONS: The CCD is a rare condition, with special clinical features. It is important to establish early diagnosis in these patients in order to offer a better quality of life, and if necessary, appropriate treatment.
INTRODUCTION:Cleidocraneal dysplasia (CCD) is a rare skeletal autosomal dominant syndrome characterized by dental anomalies and bone abnormalities. These clinical manifestations do not require treatment in most cases. The disease is caused by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6. OBJECTIVE: To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis. CASE REPORT: A 3 year old patient, who was clinically diagnosed with CCD since birth. The patient showed incomplete development of cranial bones, bell-shaped thorax, adequate dentition and presence of clavicles. Molecular analysis reported that the patient is carrying the pathogenic variant c.674G>A in the RUNX2 gene, confirming the diagnosis. CONCLUSIONS: The CCD is a rare condition, with special clinical features. It is important to establish early diagnosis in these patients in order to offer a better quality of life, and if necessary, appropriate treatment.