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[小耳畸形的临床流行病学研究]

[Clinico-epidemiologic study of microtia].

作者信息

Sánchez O, Méndez J R, Gómez E, Guerra D

机构信息

Unidad de Genética Médica, Escuela de Medicina, Universidad de Oriente, Ciudad Bolívar, Venezuela.

出版信息

Invest Clin. 1997 Dec;38(4):203-17.

PMID:9527388
Abstract

Microtia is a congenital malformation characterized by total or partial absence of the whole auricle or any of its components, varying from a small auricle to the total absence (anotia). There may be associated atresia of the external auditory meatus. The frequency varies in different parts of the world between 0.4 and 5.5/10,000 newborns. In this paper we report the clinical and epidemiological characterization of this congenital malformation in a sample of 97.759 neonates born at the Ruíz y Páez Hospital in Ciudad Bolivar, Venezuela, between April 1978 and December 1994. A total of 38 patients with microtia were identified. The global frequency was 3.8 per 10,000/newborns. In 47.4% of the patients microtia was an isolated malformation and in 52.6% was associated to other malformations. Sixty three percent of the affected were males. The unilateral form was present in 81.5% of the cases, more frequently on the right side. The annual frequency of the defect was stable over the studied years. The clinical classification of the cases with associated malformations allowed us to establish that 18.4% of the cases correspond to developmental fields defects, associated to preauricular dimples and/or tags, 7.8% were cases of the facio-auriculo-vertebral spectrum and in 15.7% the microtia was part of a monogenic or chromosomal syndrome. In 10.5% it was not possible to define any etiological or pathogenic mechanism. The frequency obtained in this study for microtia shows intermediate values when compared with others reports from Latin America.

摘要

小耳畸形是一种先天性畸形,其特征为整个耳廓或其任何组成部分完全或部分缺失,从小耳廓到完全缺失(无耳畸形)不等。可能伴有外耳道闭锁。世界各地的发病率有所不同,在每10000例新生儿中为0.4至5.5例。本文报告了1978年4月至1994年12月间在委内瑞拉玻利瓦尔城鲁伊斯·伊·派斯医院出生的97759例新生儿样本中这种先天性畸形的临床和流行病学特征。共识别出38例小耳畸形患者。总体发病率为每10000例新生儿中有3.8例。47.4%的患者小耳畸形为孤立性畸形,52.6%与其他畸形相关。63%的患者为男性。81.5%的病例为单侧畸形,右侧更为常见。在所研究的年份中,该缺陷的年发病率稳定。对伴有其他畸形的病例进行临床分类后发现,18.4%的病例对应于发育场缺陷,与耳前酒窝和/或赘生物相关;7.8%为面-耳-椎综合征病例;15.7%的小耳畸形是单基因或染色体综合征的一部分。10.5%的病例无法确定任何病因或致病机制。与拉丁美洲的其他报告相比,本研究中获得的小耳畸形发病率显示出中间值。

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