Golan I, Baumert U, Hrala B P, Müssig D
Department of Orthodontics, Division of Craniofacial Genetics, University of Regensburg, 93053 Regensburg, Germany.
Dentomaxillofac Radiol. 2003 Nov;32(6):347-54. doi: 10.1259/dmfr/63490079.
The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature.
The study comprises two elements, a complete series of all diagnosed patients at the Center for Craniofacial Genetics at the University of Regensburg, Germany, and a SR. Relevant literature was identified by electronic databases, review of citation lists and hand searching of key journals. The principal selection criterion was that the study should contain as many pertinent cases as possible. The presented signs and symptoms were assigned to the following categories: "supernumerary teeth", "failure of eruption", "hypoplastic maxilla" and "clavicular sign". Additionally, the family history was taken into account.
From the 410 English, German or French articles, 40 single case presentations and 17 multiple case studies remained that met the selection criteria. This report reviews the data of 283 patients with CCD including our own patient cohort of 24 individuals. Dental signs such as supernumerary teeth and eruption failure were expressed in over 93.5%. Skeletal symptoms such as hypoplastic maxilla and the clavicular sign were exhibited in over 84.3%. The prevalence of spontaneous mutations differs slightly when comparing the single case studies (72.0%) with our patient data (58.3%). The fraction of spontaneous mutations in multiple case studies was 5.0%.
The diagnosis of CCD can be difficult when typical features are not clearly expressed. Since the multiple case studies concentrated on specific clinical aspects, an overall ranking including all associated findings was not possible. Owing to their prevalence, we recommend referencing to the described list of clinical signs as major symptoms for the pathognomy in CCD, since they are infrequent in other conditions and in the general population. To categorize the expression of CCD, more interdisciplinary studies are necessary. Nevertheless, a subjective classification is possible according to the related restrictions in the patients' quality of life.
本研究旨在确定我们患者群体中锁骨颅骨发育不全（CCD）的临床和放射学表现，并通过对文献的系统评价（SR）将其与其他报道的病例进行比较。
本研究包括两个部分，德国雷根斯堡大学颅面遗传学中心所有确诊患者的完整系列，以及一项系统评价。通过电子数据库、引文列表回顾和关键期刊的手工检索来识别相关文献。主要选择标准是该研究应包含尽可能多的相关病例。所呈现的体征和症状被分为以下几类：“多生牙”、“萌出失败”、“上颌骨发育不全”和“锁骨征”。此外，还考虑了家族史。
从410篇英文、德文或法文文章中，有40篇单病例报告和17篇多病例研究符合选择标准。本报告回顾了283例CCD患者的数据，包括我们自己的24例患者队列。多生牙和萌出失败等牙齿体征的发生率超过93.5%。上颌骨发育不全和锁骨征等骨骼症状的发生率超过84.3%。将单病例研究（72.0%）与我们的患者数据（58.3%）进行比较时，自发突变的发生率略有不同。多病例研究中自发突变的比例为5.0%。
当典型特征未明确表现时，CCD的诊断可能会很困难。由于多病例研究集中在特定的临床方面，因此不可能进行包括所有相关发现的总体排名。由于这些体征和症状的普遍性，我们建议参考所描述的临床体征列表，将其作为CCD诊断的主要症状，因为它们在其他疾病和普通人群中并不常见。为了对CCD的表现进行分类，需要更多的跨学科研究。然而，根据患者生活质量的相关限制，进行主观分类是可能的。
