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The association of Alagille syndrome and craniosynostosis.
MedLine Citation:
PMID:  23337010     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.
Authors:
Sanem Yilmaz; Tuncer Turhan; Saffet Mutluer; Sema Aydogdu
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  48     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  146-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
Affiliation:
Division of Child Neurology, Department of Pediatrics, Ege University Medical School, Izmir, Turkey. Electronic address: yilmazsanem_@hotmail.com.
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