Document Detail


Microcephaly syndromes.
MedLine Citation:
PMID:  17980308     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.
Authors:
Dianne Abuelo
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in pediatric neurology     Volume:  14     ISSN:  1071-9091     ISO Abbreviation:  Semin Pediatr Neurol     Publication Date:  2007 Sep 
Date Detail:
Created Date:  2007-11-05     Completed Date:  2008-02-01     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9441351     Medline TA:  Semin Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  118-27     Citation Subset:  IM    
Affiliation:
Division of Genetics and Dysmorphology, Rhode Island Hospital, Brown University School of Medicine, Providence, RI 02902, USA. dabuelo@lifespan.org
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MeSH Terms
Descriptor/Qualifier:
Brain Diseases* / genetics,  pathology,  physiopathology
Craniofacial Abnormalities / genetics,  pathology,  physiopathology
Humans

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


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