Document Detail

Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.
MedLine Citation:
PMID:  10817488     Owner:  NLM     Status:  MEDLINE    
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.
E Bolland; A Y Manzur; T M Milward; F Muntoni
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2000-07-11     Completed Date:  2000-07-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9715169     Medline TA:  Eur J Paediatr Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  73-6     Citation Subset:  IM    
Department of Paediatrics, Hammersmith Hospital, London, UK.
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MeSH Terms
Brachial Plexus Neuritis / complications*,  genetics
Cervical Vertebrae / abnormalities*
Chromosome Aberrations / genetics
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 22 / genetics
Cleft Palate / complications*,  genetics
Face / abnormalities*
Heart Defects, Congenital / complications*,  genetics
Learning Disorders / complications*,  genetics
Magnetic Resonance Imaging
Medulla Oblongata / abnormalities*
Severity of Illness Index

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