Document Detail


Neonatal myotonic dystrophy.
MedLine Citation:
PMID:  3202737     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Six cases of congenital myotonic dystrophy are described. Only two survived the neonatal period. There were seven neonatal deaths in the immediate families and six reported miscarriages. Of the two survivors one is moderately retarded and the other at 9 months is at the developmental level of 5-6 months. Facial diplegia and depressed deep tendon reflexes are clues to the presence of neonatal myotonic dystrophy and the diagnosis is confirmed by examining the mother who will show some of the features of the disorder. Infants may also present with non-specific respiratory problems, hypotonia and poor sucking.
Authors:
A Cunningham; P G Procopis
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Australian paediatric journal     Volume:  24 Suppl 1     ISSN:  0004-993X     ISO Abbreviation:  Aust Paediatr J     Publication Date:  1988  
Date Detail:
Created Date:  1989-01-26     Completed Date:  1989-01-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  15420340R     Medline TA:  Aust Paediatr J     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  74-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, Children's Hospital, Camperdown, New South Wales, Australia.
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MeSH Terms
Descriptor/Qualifier:
Diagnosis, Differential
Follow-Up Studies
Humans
Infant, Newborn
Myotonic Dystrophy / genetics*,  mortality
New South Wales
Retrospective Studies

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