Document Detail


The puppet-like syndrome of Angelman.
MedLine Citation:
PMID:  7246489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Five new cases are presented of a syndrome characterized mainly by severe mental retardation, epilepsy, puppet-like ataxic movements, microbrachycephaly, prognathism, tongue protrusion, and inappropriate paroxysms of laughter. The cases are analyzed with reference to personal and family histories, clinical findings, and results of special investigations (biochemical, chromosomal, dermatoglyphic, EEG, and radiologic). The findings are compared with those in the 22 patients described previously. Though clinically distinctive, there is as yet no clear-cut evidence as to cause.
Authors:
J M Dooley; J M Berg; Z Pakula; D L MacGregor
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  135     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1981 Jul 
Date Detail:
Created Date:  1981-08-27     Completed Date:  1981-08-27     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  621-4     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Ataxia / diagnosis*
Child
Epilepsy / diagnosis*
Female
Humans
Laughter*
Male
Mental Retardation / diagnosis*
Microcephaly / diagnosis*
Movement
Prognathism / diagnosis
Syndrome
Tongue / physiopathology

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


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