A clinical epidemiological study on congenital ear malformation (CEM)

Abstract

Background

There is no report about the definition, classification and clinical epidemiological study of congenital ear malformation (CEM).

Aims/Objectives: To investigate the definition, clinical classification and distribution of a large number of CEM cases, along with the clinical and epidemiological characteristics associated with congenital malformation of the middle and outer ear (CMMOE).

Material and Methods

A total of 3231 cases (4714 ears) with CEM and related malformations were retrospectively analyzed, including 2,658 cases (4,064 ears) CEM and 573 cases (650 ears) preauricular fistulas and accessory ears, specifically related malformations to CEM.

Results

Among the 2,658 cases (4,064 ears) CEM, 64.9% cases were male and 35.1% were female. 52.9% cases with bilateral, 29.1% with right and 18.0% with left CEM. A subgroup of 1,050 cases (1,331 ears) was identified as CMMOE out of 1,090 cases (1,379 ears) microtia. In the CMMOE subgroup, 74.0% cases were male, 46.3% on the right side, 26.8% showed bilateral involvement. Out of the CMMOE with available images, there were 947 cases (1,105 ears). Additionally, related malformations including preauricular fistulas and accessory ears, were solely occured in 573 cases (650 ears), except for their occurrence simultaneously with CEM. The classification and distribution of CEM are as follows:

1. 2658 cases of CEM (1) 69.9% of them were confined to the ear, including: ① the outer ear 2.6%, the middle ear 17.0% and the inner ear 32.4%, ② two parts simultaneous malformations of the outer ear, the middle ear and the inner ear 17.2%, ③ three parts simultaneous malformations of the outer ear, the middle ear and the inner ear 0.6%, (2) Multiple malformations including in CEM 29.1%; (3) syndromes related to CEM 1.0%.

2. 1050 cases of CMMOE (1) 36.3% of them were confined to the middle and outer ears; (2) Multiple malformations associated with CMMOE 61.4%, including hemifacial microsomia 50.5%, accessory ears 9.8%, preauricular fistulas 9.2%, heart malformation 7.1%, and kidney malformation 2.0%; and (3) syndromes related to CMMOE 2.3%, (4) Complications of the ear 16.9%, mainly including otitis media 7.9%, outer ear canal cholesteatoma 6.3%, retroauricular abscess 1.1%, and nasal and pharyngeal complications 18.6%. The proportions of microcia grades I–Ⅴ based on the images of 1105 ears CMMOE were 5.2%, 10.5%, 74.1%, 6.9%, and 3.3%, respectively. Among the 1331 ears CMMOE, the incidence rates of outer ear canal atresia, stenosis, normal, and ossicles malformation were 86.5%, 9.9%, 3.6%, and 98.3%, respectively.

Conclusion and Significance: Approximately 69.9% of CEM cases were confined to the ear itself, with the highest proportion being inner ear malformation alone. Multiple malformations were predominantly associated with CMMOE. Syndromes related to CEM were relatively rare. Among cases of microtia, 96.3% were classified as CMMOE. These cases were predominantly observed in males, right ear and exhibited characteristics such as grade III microtia, atresia of the outer ear canal, ossicles malformation, and multiple malformations. The multiple malformations frequently included hemifacial microsomia, accessory ear, preauricular fistula, as well as heart and kidney deformities. CMMOE often coexisted with ear infections, cholesteatoma, and complications in the nasal and pharyngeal regions.

Chinese Abstract

背景：目前尚无先天性耳畸形（CEM）的分类、名称、定义及临床流行病学研究的报道。

目的：调查大量 CEM 的临床分类和分布病例以及与中耳和外耳先天性畸形(CMMOE)相关的临床和流行病学特征。

材料与方法：共对 3231 例（4714 耳）患有 CEM 及相关畸形的患者进行了回顾性分析。

结果：在 2,658 例 CEM 病例（4,064 耳）中, 观察到男性占 64.9%, 女性占 35.1%。 双耳畸形占52.9%, 右耳畸形占29.1%, 左耳畸形占18.0% 。在 1,090 例（1,379 只耳朵）诊断为小耳症的病例中, 鉴定出 1,050 个病例的亚群（涉及 1,331 只耳朵）患有 CMMOE。 在 CMMOE 亚群中, 74.0%的病例为男性。 此外, 在这些病例中, 46.3%的人出现了畸形右侧, 而 26.8% 表现为双侧受累。 在涉及 CMMOE 的具有影像的病例中, 共有947个病例（涉及1,105只耳朵）观察到相关畸形如耳前瘘管及副耳瘘。573个病例（涉及650耳）表现出这些畸形, 除非它们与 CEM 同时存在。CEM的分类及分布如下：1. 2658 个CEM病例： (1) 69.9%局限于耳部, 其中：①外耳2.6%, 中耳17.0%, 内耳32.4%, ②外耳两部分同时畸形, 中耳和内耳17.2%, ③外耳、中耳和内耳三部分同时畸形, 0.6%；（2）多种畸形, 其中CEM 29.1%； (3) 与CEM相关的综合征1.0%。2. 1050例CMMOE： (1) 36.3%局限于中耳和外耳； (2) 多个

与 CMMOE 相关的畸形 61.4%, 包括半面部短小症 50.5%, 副耳9.8%, 耳前瘘管9.2%, 心脏畸形7.1%, 肾脏畸形2.0%； 和（3）与CMMOE相关的综合征2.3%, （4）耳部并发症16.9%, 主要包括中耳炎7.9%, 外耳道胆脂瘤6.3%, 耳后脓肿1.1%, 以及鼻咽部并发症18.6%。 基于 1105 个CMMOE 耳的影像, I–V 级小耳比例分别为5.2%、10.5%、74.1%、6.9%和3.3%。 在1331个CMMOE耳中, 外耳道闭锁、外耳道狭窄、正常外耳道和听小骨畸形的发生率分别为 86.5%、9.9%、3.6% 和 98.3%。

结论和意义：大约 69.9% 的 CEM 病例局限于耳部本身, 其中单纯内耳畸形所占比例最高。 多发畸形主要是与 CEM 相关。 与 CEM 相关的综合征相对罕见。 在小耳症病例中, 96.3%被归类为CMMOE。 这些病例主要见于男性, 右耳, 并表现出III级小耳畸形、外耳道闭锁、小骨畸形和多发畸形等特征。 多发畸形常常包括半侧面部短小、耳朵附件、耳前瘘管以及心脏和肾脏畸形。这些畸形通常可观察到。CMMOE 常常与耳部感染、胆脂瘤以及鼻腔和咽部区域并发症并存。

Keywords:

• Congenital ear malformation (CEM)
• Microtia
• Congenital malformations of the middle and outer ear (CMMOE)
• Multiple malformations
• Clinical epidemiology

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by National Clinical Medical Center Special Project: YiHui Zou 202100003, National Logistics Support Department Special Family Planning Project: YiHui Zou 22JSZ14.