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中国口面裂及相关畸形的异质性。

Heterogeneity of Orofacial Clefts and Associated Anomalies in China.

机构信息

Department of Cleft Lip and Palate, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

J Craniofac Surg. 2023 Oct 1;34(7):e698-e701. doi: 10.1097/SCS.0000000000009611. Epub 2023 Aug 17.

Abstract

Despite the large number of affected individuals in China, information on the descriptive epidemiology of orofacial clefts in the Chinese population remains limited. Therefore, the authors aimed to report a detailed clinical classification of orofacial clefts, including microform cleft lip (CL), and associated malformations in patients from a major cleft surgical unit in China. The authors reviewed the medical records of 718 patients who underwent primary cleft repair surgery at their center between December 2016 and April 2023. The sex distribution varied with cleft type and extent, and males had a higher proportion of clefts with increased severity than females. In patients with a unilateral CL, the ratio of left-to-right-sided clefts was 1.85:1. The frequency of associated congenital malformations in patients with microform CL only, overt CL only, CL and palate, and cleft palate only was 8.0%, 7.6%, 14.9%, and 30.9%, respectively. A total of 98 malformations were observed in 69 patients with congenital anomalies of unknown origin. Among these, cardiovascular anomalies were the most common, identified in 27 patients (39.1%), followed by head and neck and musculoskeletal anomalies. The high risk of heart defects highlights the importance of routine echocardiography. Microform CL exhibited increased prevalence and a similar frequency of associated malformations with overt CL, suggesting that this mild phenotype requires further attention by clinicians.

摘要

尽管中国有大量的唇腭裂患者,但中国人群唇腭裂描述性流行病学的信息仍然有限。因此,作者旨在报告中国一个主要的腭裂外科中心患者的详细临床分类,包括微小型唇裂(CL)和相关畸形。作者回顾了 2016 年 12 月至 2023 年 4 月期间在该中心接受初次腭裂修复手术的 718 名患者的病历。性别的分布因裂隙类型和程度而异,男性中较严重裂隙的比例高于女性。在单侧 CL 患者中,左侧 CL 与右侧 CL 的比例为 1.85:1。仅有微小型 CL、明显 CL、CL 和腭裂以及单纯腭裂的患者中,伴有先天性畸形的频率分别为 8.0%、7.6%、14.9%和 30.9%。在 69 名先天性畸形病因不明的患者中,共观察到 98 种畸形。其中,心血管畸形最为常见,有 27 名患者(39.1%),其次是头颈部和肌肉骨骼畸形。心脏缺陷的高风险突出了常规超声心动图的重要性。微小型 CL 的患病率增加,伴发畸形的频率与明显 CL 相似,表明这种轻度表型需要临床医生进一步关注。

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