Document Detail


De Barsy syndrome: a review of the phenotype.
MedLine Citation:
PMID:  18388779     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
De Barsy syndrome is a rare, autosomal recessive syndrome characterised by a progeria-like appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopaedic and neurological abnormalities are also typically present. The syndrome was first described by de Barsy et al. in 1967 and since that time approximately 27 further cases have been reported worldwide. We present a case that demonstrates the typical clinical and histological features of de Barsy syndrome. A female infant, the second child of first-cousin parents from a multiply consanguineous family of Pakistani origin, presented at birth with growth retardation, cutis laxa and a progeria-like appearance. She had thin, overlapping fingers and adducted thumbs, blue sclerae, cloudy corneas and myopia. She has failed to thrive and has marked developmental delay and abnormal athetoid movements. During the first year of life she developed pectus excavatum and her facial appearance became more aged. To our knowledge there are no previous reports of de Barsy syndrome in individuals of Pakistani origin.
Authors:
Emma C Kivuva; Michael J Parker; Marta C Cohen; Bart E Wagner; Glenda Sobey
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  17     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2008 Apr 
Date Detail:
Created Date:  2008-04-04     Completed Date:  2008-05-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  99-107     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Gladstone Road, Exeter, UK. emma.kivuva@rdeft.nhs.uk
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  pathology*
Asian Continental Ancestry Group
Cutis Laxa / pathology*
Eye Abnormalities / pathology*
Facies*
Failure to Thrive / pathology
Female
Fingers / abnormalities
Humans
Infant
Male
Progeria / pathology*
Skin / pathology
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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