| Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing. | |
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MedLine Citation:
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PMID: 10817488 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Velocardiofacial syndrome is the most common microdeletion syndrome in humans. It is secondary to a chromosome 22q11 rearrangement and is characterized by craniofacial abnormalities, heart defects and learning disability. We report a case of a 10-year-old girl with a chromosome 22q11 deletion who, in addition to learning difficulties, hypernasal speech and mild dysmorphic features, had weakness and wasting of the shoulder girdle muscles but no cardiac involvement. Brain magnetic resonance imaging revealed narrowing of the cervicomedullary junction. The clinical features of this patient with velocardiofacial syndrome further expand the spectrum of abnormalities associated with this condition. |
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Authors:
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E Bolland; A Y Manzur; T M Milward; F Muntoni |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 4 ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2000 |
Date Detail:
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Created Date: 2000-07-11 Completed Date: 2000-07-11 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 73-6 Citation Subset: IM |
Affiliation:
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Department of Paediatrics, Hammersmith Hospital, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brachial Plexus Neuritis
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complications*,
genetics Cervical Vertebrae / abnormalities* Child Chromosome Aberrations / genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 22 / genetics Cleft Palate / complications*, genetics Face / abnormalities* Female Heart Defects, Congenital / complications*, genetics Humans Learning Disorders / complications*, genetics Magnetic Resonance Imaging Medulla Oblongata / abnormalities* Severity of Illness Index Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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