Medina Olga, Muñoz Nelson, Moneriz Carlos
Hospital Naval, Cartagena, Colombia.
Facultad de Medicina, Universidad de Cartagena, Colombia.
Rev Chil Pediatr. 2017;88(4):517-523. doi: 10.4067/S0370-41062017000400012.
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.
To report a case of CCD and perform a literature review focused on clinical manifestations and diagnosis.
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.
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.
锁骨颅骨发育不全（CCD）是一种罕见的常染色体显性骨骼综合征，其特征为牙齿异常和骨骼畸形。在大多数情况下，这些临床表现无需治疗。该疾病由位于6号染色体短臂上的RUNX2（CBAF1）基因突变引起。
报告一例CCD病例，并针对临床表现和诊断进行文献综述。
一名3岁患者，自出生起临床诊断为CCD。该患者显示颅骨发育不全、胸廓呈钟形、牙列正常且有锁骨。分子分析报告显示，该患者携带RUNX2基因的致病性变异c.674G>A，确诊了该疾病。
CCD是一种罕见病症，具有特殊的临床特征。对这些患者进行早期诊断很重要，以便提供更好的生活质量，必要时进行适当治疗。
