Preterm Diagnosis of Choristoma and Choroidal Coloboma in Goldenhar's Syndrome

Author:

Herwig Martina C.1,Gembruch Ulrich2,Born Mark3,Gevensleben Heidrun4,Loeffler Karin U.1,Müller Annette M.4

Affiliation:

1. Department of Ophthalmology, Division of Ophthalmic Pathology, University of Bonn, Ernst-Abbe-Str. 2, 53127 Bonn, Germany

2. Department of Obstetrics and Prenatal Medicine, University of Bonn, Sigmund-Freund-Str. 25, 53127 Bonn, Germany

3. Department of Radiology, University of Bonn, Sigmund-Freund-Str. 25, 53127 Bonn, Germany

4. Department of Paidopathology, University of Bonn, Sigmund-Freund-Str. 25, 53127 Bonn, Germany

Abstract

In addition to general pathological findings characteristic of Goldenhar's syndrome, we report ocular findings in a 22-week-old fetus with hemifacial microsomia, endorsing this diagnosis. After abortion the fetus was examined via a standard paidopathological autopsy including ophthalmopathologic macroscopic and microscopic examination of both eyes. Postmortem findings included left hemifacial microsomia with ipsilateral microtia, atresia of the acoustic meatus, microphthalmia, a ventricular septal defect, and abnormalities of the ribs. Ophthalmopathological examination of the affected microphthalmic eye revealed a scleral choristoma (cartilage), choroidal/retinal pigment epithelium coloboma, and staphyloma. General pathology findings plus the ocular findings allowed the diagnosis of Goldenhar's syndrome. The cartilaginous choristoma present in the patient has previously not been reported in association with this syndrome. A discussion of differential diagnoses is provided, confirming that the ophthalmopathological investigation of fetal eyes can be of great value for classifying syndromes associated with microphthalmia.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Syndromic Eye Anomalies;Fetal and Neonatal Eye Pathology;2020

2. Techniques of Eye Investigation;Fetal and Neonatal Eye Pathology;2020

3. Airline problem with a case of Goldenhar syndrome (oculo-auriculo-vertebral spectrum);Journal of Health Sciences and Medicine;2018-10-01

4. Epibulbar complex cartilaginous choristoma;Medicine;2018-02

5. Genetic background-dependent role of Egr1 for eyelid development;Proceedings of the National Academy of Sciences;2017-08-04

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3