| Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. | |
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MedLine Citation:
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PMID: 8151641 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome. |
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Authors:
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S P Horslen; O W Quarrell; M S Tanner |
Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article; Review |
Journal Detail:
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Title: Journal of medical genetics Volume: 31 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1994 Jan |
Date Detail:
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Created Date: 1994-05-10 Completed Date: 1994-05-10 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 62-4 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Sheffield Children's Hospital, UK. |
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* Arthrogryposis / pathology* Cholestasis / pathology* Female Humans Infant, Newborn Kidney Diseases / pathology* Liver / pathology* Male Syndrome |
| Comments/Corrections | |
Comment In:
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J Med Genet. 1994 Oct;31(10):820
[PMID:
7837262
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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