| Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. | |
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MedLine Citation:
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PMID: 14681753 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. We report a further case and provide updated information about an unrelated girl reported in the original paper by Baraitser and Winter. Both of them presented with pachygyria and the latter case was recently found to have subcortical band heterotopia on high resolution brain MRI imaging. These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of syndromic neuronal migration defect. |
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Authors:
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M Rossi; R Guerrini; W B Dobyns; G Andria; R M Winter |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Neuropediatrics Volume: 34 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2003 Dec |
Date Detail:
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Created Date: 2003-12-18 Completed Date: 2004-04-15 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 287-92 Citation Subset: IM |
Affiliation:
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Clinical Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, University College London, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Adolescent Brain / pathology* Child, Preschool Developmental Disabilities / pathology* Facies* Female Humans Male Nervous System Malformations / pathology* Syndrome |
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