| Pre-term diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. | |
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MedLine Citation:
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PMID: 21345085 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract objectives: Besides general pathological findings characteristic for Goldenhar's syndrome, we report ocular findings in a 22-week-old fetus with hemifacial microsomia endorsing this diagnosis. methods: After abortion the fetus was examined by a standard paidopathological autopsy including ophthalmopathologic macroscopic and microscopic examination of both eyes.principal results: Post mortem 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/RPE coloboma and staphyloma.conclusion: General pathology findings plus the ocular findings (including a cartilaginous choristoma previously not reported in association with this syndrome) allowed the diagnosis of Goldenhar's syndrome. A discussion of differential diagnoses is provided thus confirming that the ophthalmopathological investigation of fetal eyes can be of great value for classifying syndromes associated with microphthalmia. |
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Authors:
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Martina C Herwig; Ulrich Gembruch; Mark Born; Karin U Loeffler; Annette M Müller |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-23 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: - ISSN: 1093-5266 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1 University of Bonn. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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