Document Detail


Autosomal recessive frontotemporal pachygyria.
MedLine Citation:
PMID:  14708094     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have bilateral frontotemporal pachygyria without polymicrogyria. The pachygyria is accompanied by moderate mental retardation, esotropia, and either hypertelorism or telecanthus. They are otherwise morphologically normal and do not have microcephaly. Two experienced a single seizure in infancy. The characteristic phenotype present in this family suggests a new genetic syndrome that is likely inherited as an autosomal recessive trait.
Authors:
Dorian Ramirez; Edward J Lammer; Caroline B Johnson; Cynthia D Peterson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  124A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jan 
Date Detail:
Created Date:  2004-01-06     Completed Date:  2004-07-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  231-8     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Affiliation:
Children's Hospital Research Institute, Oakland, California 94609, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child
Child, Preschool
Family Health
Female
Frontal Lobe / abnormalities*
Genes, Recessive*
Humans
Male
Nervous System Malformations / genetics,  pathology
Pedigree
Syndrome
Temporal Lobe / abnormalities*
Grant Support
ID/Acronym/Agency:
M01RR01271/RR/NCRR NIH HHS

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


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