先天性小闭锁1例

M. Alipour, K. Khashei Varnamkhasti
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引用次数: 0

摘要

背景与目的小耳闭锁是一种罕见的先天性畸形,其特征是耳廓小且形状异常(小耳)并伴有耳道狭窄、阻塞或缺失(闭锁)。小体缺失既可以作为独立的临床异常出现,也可以作为综合征的一部分出现。由于听力损失,80%-90%的患者有言语障碍和学习成绩不佳的风险。这种具有遗传易感性和常染色体显性或隐性孟德尔遗传模式的异常,以及由染色体畸变引起的异常,发生率从每10,000个新生儿0.83到17.4不等,通常是单侧形式,在男性中更常见。本文报告了一位34岁母亲所生的足月男婴微闭锁。在儿科医生的初步检查中,观察到婴儿右耳外耳发育不正常,耳道缺失。在更仔细的检查中,没有观察到颅面异常和小脑相关综合征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Case Report of Congenital Microtia-Atresia
Background and Objectives Microtia-atresia is a rare congenital anomaly, which characterized by a small, abnormally shaped auricle (microtia) accompanied with narrow, blocked or absent ear canal (atresia). Microtia can occur appear either as independent clinical abnormality or as part of a syndrome. Due to hearing loss, 80%–90% of patients are at increasing risk of speech and poor academic performance. This abnormality with genetic predisposition and autosomal dominant or recessive mode of Mendelian hereditary, as well as forms due to chromosomal aberrations, occur in varying degrees from 0.83 to 17.4 per 10,000 births, usually unilateral form with more common in males. Case Presentation In this article, a term male neonate with microtia-atresia, born of a 34-year-old mother, was reported. On initial examination by a pediatrician, not properly formation of external right ear and absence of the ear canal was observed in infant. In a closer examination no craniofacial anomalies and no microtia associated syndrome was not observed.
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