| Lethal arthrogryposis multiplex congenita: a pathological study of 21 cases. | |
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MedLine Citation:
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PMID: 1757069 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Twenty-one cases of arthrogryposis multiplex congenita, which had resulted in death soon after birth or had been aborted following prenatal diagnosis, were studied. Histochemical and histological study of muscle indicated that 11 cases were of myogenic origin, including congenital muscular dystrophy in 10 cases from six families and nemaline rod myopathy in one. Neurogenic causation was established in five cases, including three with intra-uterine anoxic-ischaemic damage and two siblings with a severe form of cerebro-ocular-facio-skeletal syndrome. Causation remained uncertain in five. Unusual features included atrophy or amyoplasia of the diaphragm associated with lung hypoplasia in 10 cases and evidence of birth trauma in seven cases. One pair of siblings had subcutaneous tissue of doughy consistency and another pair had bladder hypertrophy. Familial recurrence was seen most often in cases with evidence of myogenic origin. We consider that neuropathology and muscle histochemistry are essential aids in determining the risks of recurrence in this group of lethal conditions which defy analysis by syndrome recognition techniques. |
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Authors:
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C M Quinn; J S Wigglesworth; J Heckmatt |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Histopathology Volume: 19 ISSN: 0309-0167 ISO Abbreviation: Histopathology Publication Date: 1991 Aug |
Date Detail:
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Created Date: 1992-02-05 Completed Date: 1992-02-05 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7704136 Medline TA: Histopathology Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 155-62 Citation Subset: IM |
Affiliation:
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Department of Histopathology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arthrogryposis
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pathology* Brain / pathology Female Humans Infant, Newborn Male Muscles / pathology Muscular Dystrophies / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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