Cano-Pérez Eder, Gómez-Alegría Claudio, Herrera Fredy Pomares, Gómez-Camargo Doris, Malambo-García Dacia
Grupo de Investigación UNIMOL, Facultad de Medicina, Universidad de Cartagena, Cartagena de Indias, Colombia.
Grupo de Investigación UNIMOL, Departamento de Farmacia, Facultad de Ciencias, Universidad Nacional de Colombia, Sede Bogotá, Bogotá, Colombia.
Ann Med Surg (Lond). 2022 Apr 10;77:103611. doi: 10.1016/j.amsu.2022.103611. eCollection 2022 May.
Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial, skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million inhabitants; thus, only a few studies have described large cohorts of CCD patients. This study reviewed the clinical-radiological and demographic characteristics of patients with CCD in South America.
We conducted a systematic review of all cases of CCD reported in South America following the PRISMA guidelines. Demographic information (sex, age at diagnosis, origin, reason for consultation, and family history) was also recorded. CCD signs were divided into "craniofacial" and "skeletal" categories.
A total of 72 cases were included. We found that oral anomalies were the most common reason for consultation leading to a diagnosis in patients, with a median age at diagnosis of 14 years. Fifty percent of the patients were women. Open fontanels or cranial sutures, the presence of at least one of the typical CCD facies (frontal bossing, brachycephaly, hypertelorism, or depression of the nasal bridge), and supernumerary teeth were reported in 92%, 85%, and 88% of cases, respectively. Clavicular dysplasia was present in 98.6% of cases, and other skeletal abnormalities such as scoliosis, pubic symphysis diastasis, and flat feet were found; short stature was present in 71% of cases, and one case presented cognitive deficits.
Although the phenotypic spectrum of CCD is variable, clavicular dysplasia, open fontanels or cranial sutures, dental anomalies, and at least one of the typical CCD facies are present in at least 80% of cases.
锁骨颅骨发育不全（CCD）是一种罕见疾病，其特征为颅面、骨骼及口腔异常。该病的患病率估计为每百万居民中有1例；因此，仅有少数研究描述过大量CCD患者队列。本研究回顾了南美洲CCD患者的临床放射学及人口统计学特征。
我们按照PRISMA指南对南美洲报道的所有CCD病例进行了系统评价。还记录了人口统计学信息（性别、诊断时年龄、籍贯、就诊原因及家族史）。CCD体征分为“颅面”和“骨骼”两类。
共纳入72例病例。我们发现口腔异常是导致患者确诊的最常见就诊原因，诊断时的中位年龄为14岁。50%的患者为女性。分别有92%、85%和88%的病例报告有囟门或颅缝未闭、至少存在一种典型的CCD面容（额部隆起、短头畸形、眼距过宽或鼻梁凹陷）及多生牙。98.6%的病例存在锁骨发育不全，还发现了其他骨骼异常，如脊柱侧弯、耻骨联合分离及扁平足；71%的病例身材矮小，1例存在认知缺陷。
尽管CCD的表型谱具有变异性，但至少80%的病例存在锁骨发育不全、囟门或颅缝未闭、牙齿异常以及至少一种典型的CCD面容。
