Document Detail


Filippi syndrome: further clinical characterization.
MedLine Citation:
PMID:  18553552     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome.
Authors:
Agatino Battaglia; Tiziana Filippi; Silvia Pusceddu; Charles A Williams
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1848-52     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Affiliation:
Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy. abattaglia@inpe.unipi.it
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Child, Preschool
Craniofacial Abnormalities / genetics
Fetal Growth Retardation / genetics
Genes, Recessive
Growth Disorders / genetics*
Humans
Male
Mental Retardation / genetics*
Microcephaly / genetics*
Phenotype
Syndactyly / genetics*
Syndrome

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


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