Document Detail


Coffin-Lowry syndrome.
MedLine Citation:
PMID:  14719793     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The Coffin-Lowry syndrome is an established syndrome of severe mental and growth retardation, characteristic dysmorphic features and skeletal anomalies. The authors report a one and half year old boy with classical features of this syndrome. Early recognition of this condition is important for genetic counseling and prevention of progressive skeletal deformities.
Authors:
Sanjeev R Ahuja; Shubhangi Upadhye; Hemant V Kulkarni; Madhuri V Kulkarni
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Indian journal of pediatrics     Volume:  70     ISSN:  0019-5456     ISO Abbreviation:  Indian J Pediatr     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2004-01-14     Completed Date:  2004-02-02     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0417442     Medline TA:  Indian J Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  1001-2     Citation Subset:  IM    
Affiliation:
Division of Pediatric Neurology, Department of Pediatrics, L.T.M. Medical College & L.T.M.G. Hospital, Sion, Mumbai, India. drsanjeevahuja73@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Coffin-Lowry Syndrome*
Genetic Counseling
Humans
Infant
Male

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


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