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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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An interesting case presentation: pulmonary malformations associated with oculoauriculovertebral dysplasia (Goldenhar anomalad).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。
J Perinatol. 1991 Jun;11(2):190-2.
2
Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case.戈尔登哈综合征(眼耳脊椎发育不良):一例报告。
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Goldenhar syndrome and neuroblastoma: a chance association?戈尔登哈综合征与神经母细胞瘤:一种偶然关联?
Acta Paediatr. 2003 Oct;92(10):1223-5. doi: 10.1080/08035250310005729.
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Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?右侧肺发育不全伴同侧小耳畸形:一种新的偏侧性关联还是眼耳脊椎综合征的一部分?
Prenat Diagn. 2002 Nov;22(11):1053-4; author reply 1054-5. doi: 10.1002/pd.446.
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Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report.伴有一系列严重临床表现的眼耳脊椎综合征——病例报告
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Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia.戈尔登哈综合征:一例因肋骨发育不全和肺发育不全而扩展表型的新病例。
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Oculoauriculovertebral dysplasia (Goldenhar's syndrome).眼耳脊椎发育不良(戈尔登哈综合征)。
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Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia.眼耳脊椎发育异常中的先天性心脏、肺部和血管畸形。
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A family with dominant oculoauriculovertebral spectrum.一个患有显性眼耳脊柱综合征的家族。
Am J Med Genet. 1998 Jul 24;78(4):345-9. doi: 10.1002/(sici)1096-8628(19980724)78:4<345::aid-ajmg8>3.0.co;2-k.

引用本文的文献

1
A Constellation of Rare Findings in a Case of Goldenhar Syndrome.一例Goldenhar综合征患者的罕见发现组合
Case Rep Pediatr. 2017;2017:3529093. doi: 10.1155/2017/3529093. Epub 2017 May 21.
2
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association.伴有右位心和右肺发育不全的Goldenhar综合征:一种罕见的关联。
Case Rep Genet. 2017;2017:2625030. doi: 10.1155/2017/2625030. Epub 2017 Mar 9.
3
Goldenhar syndrome with contralateral pulmonary aplasia: a rare association.伴有对侧肺发育不全的Goldenhar综合征:一种罕见的关联。
J Radiol Case Rep. 2016 Jan 31;10(1):35-40. doi: 10.3941/jrcr.v10i1.2113. eCollection 2016 Jan.