Document Detail

Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis.
MedLine Citation:
PMID:  12047706     Owner:  NLM     Status:  MEDLINE    
Fryns syndrome is a rare autosomal recessive disorder of multiple congenital abnormalities. Major diagnostic criteria include congenital diaphragmatic hernia, distal limb and nail hypoplasia and abnormal facies. More than 70 cases have been reported since the first report in 1979, 86% of which have been associated with an early lethal outcome. We report the case of a survivor who also has associated Hirschsprung's disease. On review of previously reported cases, defects of neuronal migration may be more common than previously recognized. The diaphragmatic hernia was repaired in two stages with a silastic patch followed by a reversed latissimus dorsi muscle flap.
C Davis; U Samarakkody
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of paediatrics and child health     Volume:  38     ISSN:  1034-4810     ISO Abbreviation:  J Paediatr Child Health     Publication Date:  2002 Jun 
Date Detail:
Created Date:  2002-06-05     Completed Date:  2002-09-09     Revised Date:  2007-09-24    
Medline Journal Info:
Nlm Unique ID:  9005421     Medline TA:  J Paediatr Child Health     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  318-20     Citation Subset:  IM    
Department of Paediatric Surgery, Waikato Hospital, Hamilton, New Zealand.
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MeSH Terms
Abnormalities, Multiple / genetics*
Follow-Up Studies
Hand Deformities, Congenital / diagnosis*
Heart Defects, Congenital / diagnosis*
Hernia, Diaphragmatic / diagnosis*,  genetics
Hirschsprung Disease / diagnosis*,  therapy
Infant, Newborn
Mental Retardation / diagnosis*

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