BACKGROUND To evaluate the relationship between gender, ethnicity/citizenship, clinical phenotype, total prevalence, and the various congenital malformations associated with oral clefts (OC) in Italy across the period 2001-2014. METHODS A retrospective analysis (2001-2014) was conducted based on the National Congenital Malformation Registries network of Italy (Emilia-Romagna Registry of Birth Defects [IMER] and Registro Toscano Difetti Congeniti [RTDC]), which were analyzed to investigate time trends, geographical/ethnic clusters, topography, sex ratio, and associated congenital anomalies of OC phenotypes. RESULTS Among 739 registered cases, 29.8% were syndromic or had multi-malformed associated anomalies, compared with 70.2% having isolated orofacial cleft. Cleft lip (CL) was observed in 22%, cleft palate (CP) in 40%, and cleft lip and palate (CLP) in 38% of live births, stillbirths, and terminations of pregnancy for fetal anomaly cases. Other associated conditions were major anomalies of cardiovascular defects (39%), followed by defects of the limbs (28%), neuroectodermal defects (23%), and urogenital malformations (10%). Male-to-female sex ratio was 1:1.14 in CP, 1.22:1 in CL, and 1.9:1 in CLP. Foreigners were represented by 29% from Southeast Asia, 25% from Balkans, 25% from North-Central Africa, 9% from the East, 7% from Western Europe, and 5% from South America. Total prevalence of OC cases ranged from 0.9 (RTDC) to 1.1 (IMER) of 1000 births. CONCLUSIONS This retrospective study provides a population-based, clinical-epidemiological description of the orofacial cleft phenomenon. As a relatively frequent congenital malformation, its social and economic impact is worthy of further study. These abnormalities can cause significant problems that may be solved or minimized by early diagnosis and treatment.

中文翻译：

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口面部裂隙及其相关先天性异常的流行病学特征：回顾性研究。


背景旨在评估 2001 年至 2014 年期间意大利性别、种族/公民身份、临床表型、总患病率以及与口裂 (OC) 相关的各种先天畸形之间的关系。方法 基于意大利国家先天性畸形登记网络（艾米利亚-罗马涅出生缺陷登记处 [IMER] 和托斯卡诺 Difetti 先天性登记处 [RTDC]）进行回顾性分析（2001-2014 年），分析数据以调查时间趋势，地理/种族集群、地形、性别比例以及 OC 表型的相关先天异常。结果 在 739 例登记病例中，29.8% 为综合征型或具有多种畸形相关异常，而 70.2% 为孤立性口颌裂。在活产、死产和因胎儿异常终止妊娠的病例中，唇裂 (CL) 占 22%，腭裂 (CP) 占 40%，唇腭裂 (CLP) 占 38%。其他相关病症是心血管缺陷的主要异常（39%），其次是四肢缺陷（28%）、神经外胚层缺陷（23%）和泌尿生殖畸形（10%）。 CP中男女性别比为1:1.14，CL中为1.22:1，CLP中为1.9:1。外国人中，29%来自东南亚，25%来自巴尔干地区，25%来自中北部非洲，9%来自东方，7%来自西欧，5%来自南美洲。每 1000 名新生儿中 OC 病例的总患病率范围为 0.9 (RTDC) 至 1.1 (IMER)。结论 这项回顾性研究提供了基于人群的口面裂现象的临床流行病学描述。作为一种较为常见的先天畸形，其社会和经济影响值得进一步研究。 这些异常可能会导致严重的问题，而这些问题可以通过早期诊断和治疗来解决或最小化。