| Lethal epiphyseal stippling in the foetus and neonate; pathological implications. | |
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MedLine Citation:
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PMID: 20084395 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autopsy reports accumulated since 1991 contained 30 cases in which routine radiological investigation had demonstrated radio-dense stippling of the epiphyses. The case histories, pregnancy progress, clinical manifestations, cytogenetic investigations, and autopsy findings have been tabulated and analysed for the purpose of diagnostic discrimination. Firm diagnoses were obtained in eight instances: warfarin embryopathy-three, trisomy 18-three, lethal multiple pterygium syndrome-one. Other possible but unconfirmed diagnoses were chromosomal aneuploidy-three, sonic hedgehog phenotype-one, CHARGE association-one, intrauterine infection-one. The value of autopsy in foetuses and neonates with lethal epiphyseal stippling syndromes is exemplified by the detection of multiple visceral abnormalities in ten instances. |
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Authors:
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Helen Wainwright; Peter Beighton |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Virchows Archiv : an international journal of pathology Volume: 456 ISSN: 1432-2307 ISO Abbreviation: Virchows Arch. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-12 Completed Date: 2010-03-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9423843 Medline TA: Virchows Arch Country: Germany |
Other Details:
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Languages: eng Pagination: 301-8 Citation Subset: IM |
Affiliation:
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Division of Pathology, Faculty of Health Sciences, University of Cape Town, Observatory, 7925 Cape Town, South Africa. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology Adolescent Adult Aneuploidy Autopsy Chondrodysplasia Punctata / etiology, pathology* Female Fetal Death / etiology, pathology Fetus / pathology Humans Infant, Newborn Male Pregnancy |
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