| Neuroimaging fails to identify asymptomatic carriers of familial porencephaly. | |
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MedLine Citation:
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PMID: 12244556 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Familial porencephaly is a rare condition usually transmitted as an autosomal dominant trait with incomplete penetrance. We describe a new family in which six members across four generations had congenital hemiplegia. Cerebral imaging was performed in three patients and showed porencephaly in all cases. In order to provide effective genetic counseling, three asymptomatic carriers were investigated by cerebral computerized tomography (three patients) and cerebral magnetic resonance imaging (one patient). These investigations failed to show any congenital abnormalities. We conclude that cerebral imaging is unreliable to detect obligate carriers of familial porencephaly. |
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Authors:
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C Vilain; N Van Regemorter; A Verloes; P David; P Van Bogaert |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 112 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2002 Oct |
Date Detail:
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Created Date: 2002-09-23 Completed Date: 2003-03-11 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: United States |
Other Details:
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Languages: eng Pagination: 198-202 Citation Subset: IM |
Copyright Information:
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Copyright 2002 Wiley-Liss, Inc. |
Affiliation:
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Department of Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Female Genes, Recessive* Hemiplegia / etiology, genetics Heterozygote* Humans Infant Magnetic Resonance Imaging Male Pedigree Telencephalon / abnormalities*, radiography Tomography, X-Ray Computed |
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