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一个有趣的病例报告:与眼耳脊椎发育不良(Goldenhar异常)相关的肺部畸形。

An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar anomalad).

作者信息

Downing G J, Kilbride H

机构信息

University of Missouri-Kansas City Medical School, Children's Mercy Hospital 64108.

出版信息

J Perinatol. 1991 Jun;11(2):190-2.

PMID:1890482
Abstract

Oculoauriculovertebral dysplasia (OAV) is a heterogeneous field defect involving the first and second branchial arches and is characterized by microtia, mandibular hypoplasia, vertebral anomalies, and epibulbar dermoids. We report a case of OAV with pulmonary manifestations and review the literature regarding this association. Anomalies identified were previously undescribed tracheal stenosis, along with tracheoesophageal cleft and unilateral pulmonary agenesis. Recognition of the pulmonary malformations associated with OAV may lead clinicians to consider a diagnostic measure such as flexible fiberoptic endoscopy in the evaluation of infants with craniofacial malformations and respiratory distress.

摘要

眼耳脊椎发育不全(OAV)是一种涉及第一和第二鳃弓的异质性区域缺陷,其特征为小耳畸形、下颌发育不全、脊柱异常和眼球表层皮样囊肿。我们报告一例伴有肺部表现的OAV病例,并回顾有关这种关联的文献。所发现的异常包括先前未描述过的气管狭窄,以及气管食管裂和单侧肺不发育。认识到与OAV相关的肺部畸形可能会促使临床医生在评估患有颅面畸形和呼吸窘迫的婴儿时考虑采取诸如可弯曲纤维内镜检查等诊断措施。

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