Document Detail


Genetic syndromes mimic congenital infections.
MedLine Citation:
PMID:  15870678     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Genetic syndromes that mimic congenital infection are important to recognize because of the associated risk of recurrence. We describe two brothers born to consanguineous parents with clinical features suggestive of intrauterine infection but with negative serologic investigations. Our observations suggest that Aicardi-Goutieres syndrome (AGS) and pseudo-TORCH syndrome likely represent the same disorder.
Authors:
A Sanchis; L Cerveró; A Bataller; J L Tortajada; J Huguet; Y J Crow; M Ali; L J Higuet; M L Martínez-Frías
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  146     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-05-04     Completed Date:  2005-06-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  701-5     Citation Subset:  AIM; IM    
Affiliation:
Pediatric Service, Dr. Peset University Hospital, Valencia, Spain.
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Craniofacial Abnormalities / genetics*,  pathology
Fatal Outcome
Female
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Phenotype
Syndrome

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