Abstract：
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■没有关于定义的报告，先天性耳畸形（CEM）的分类和临床流行病学研究。目的/目标：调查定义，大量CEM病例的临床分类和分布，以及与先天性中耳和外耳畸形（CMMOE）相关的临床和流行病学特征。
■对3231例（4714耳）CEM及相关畸形进行回顾性分析，包括2,658例（4,064耳）CEM和573例（650耳）耳前瘘和副耳，与CEM特别相关的畸形。
■在2,658例（4,064耳）CEM中，男性占64.9%，女性占35.1%。52.9%病例为双侧，右侧为29.1%，左侧为18.0%。在1,090例（1,379耳）小耳症中，有1,050例（1,331耳）的亚组被确定为CMMOE。在CMMOE子群中，74.0%为男性,右侧46.3%，26.8%表现为双边参与。在带有可用图像的CMMOE中，947例(1105耳)。此外,相关畸形，包括耳前瘘和副耳，仅发生在573例(650耳)中，除了它们与CEM同时发生。CEM的分类和分布如下:1.2658例CEM(1)其中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外耳三部分同时畸形，中耳和内耳0.6%，（2）多个畸形，包括CEM29.1％；（3）与CEM相关的综合征1.0％。1050例CMMOE（1）其中36.3％局限于中耳和外耳；（2）与CMMOE相关的多发畸形61.4％，包括50.5%的面部微缩,附属耳朵9.8%，耳前瘘9.2%,心脏畸形7.1%,和肾脏畸形2.0％；（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%，鼻咽部并发症18.6%。根据1105耳CMMOE的图像，I-V级微生物的比例为5.2％，10.5%,74.1%,6.9%，和3.3%，分别。在1331耳CMMOE中，外耳道闭锁的发生率，狭窄,正常,听骨畸形占86.5%,9.9%，3.6%,和98.3%，分别。结论和意义：大约69.9%的CEM病例局限于耳朵本身，仅内耳畸形比例最高。多发性畸形主要与CMMOE有关。与CEM相关的综合征相对罕见。在微小症病例中，96.3%被归类为CMMOE。这些病例主要在男性中观察到，右耳并表现出III级小耳症等特征，外耳道闭锁,小骨畸形,和多种畸形。多发性畸形经常包括半面微缩，附属耳朵，耳前瘘,还有心脏和肾脏畸形.CMMOE经常与耳部感染共存，胆脂瘤,以及鼻部和咽部的并发症。
■对3231例（4714耳）CEM及相关畸形进行回顾性分析，包括2,658例（4,064耳）CEM和573例（650耳）耳前瘘和副耳，与CEM特别相关的畸形。
■在2,658例（4,064耳）CEM中，男性占64.9%，女性占35.1%。52.9%病例为双侧，右侧为29.1%，左侧为18.0%。在1,090例（1,379耳）小耳症中，有1,050例（1,331耳）的亚组被确定为CMMOE。在CMMOE子群中，74.0%为男性,右侧46.3%，26.8%表现为双边参与。在带有可用图像的CMMOE中，947例(1105耳)。此外,相关畸形，包括耳前瘘和副耳，仅发生在573例(650耳)中，除了它们与CEM同时发生。CEM的分类和分布如下:1.2658例CEM(1)其中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外耳三部分同时畸形，中耳和内耳0.6%，（2）多个畸形，包括CEM29.1％；（3）与CEM相关的综合征1.0％。1050例CMMOE（1）其中36.3％局限于中耳和外耳；（2）与CMMOE相关的多发畸形61.4％，包括50.5%的面部微缩,附属耳朵9.8%，耳前瘘9.2%,心脏畸形7.1%,和肾脏畸形2.0％；（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%，鼻咽部并发症18.6%。根据1105耳CMMOE的图像，I-V级微生物的比例为5.2％，10.5%,74.1%,6.9%，和3.3%，分别。在1331耳CMMOE中，外耳道闭锁的发生率，狭窄,正常,听骨畸形占86.5%,9.9%，3.6%,和98.3%，分别。结论和意义：大约69.9%的CEM病例局限于耳朵本身，仅内耳畸形比例最高。多发性畸形主要与CMMOE有关。与CEM相关的综合征相对罕见。在微小症病例中，96.3%被归类为CMMOE。这些病例主要在男性中观察到，右耳并表现出III级小耳症等特征，外耳道闭锁,小骨畸形,和多种畸形。多发性畸形经常包括半面微缩，附属耳朵，耳前瘘,还有心脏和肾脏畸形.CMMOE经常与耳部感染共存，胆脂瘤,以及鼻部和咽部的并发症。
