Document Detail

Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome.
MedLine Citation:
PMID:  8309897     Owner:  NLM     Status:  MEDLINE    
Congenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected infant is about 2 per cent. A multifactorial/threshold inheritance pattern with an observed high male:female sex ratio is currently favoured for the rare occurrence of familial CDH, although other modes of inheritance have also been described. We report three cases of familial CDH, two of whom were brother and sister sibs and the third was a first cousin, born within 18 months of each other. The diagnosis was by ultrasound and there were several factors predicting a poor outcome. The mortality in this group was 100 per cent. The prenatal diagnosis, treatment options, the unusual genetic aspects, outcome, and the pathology involved are discussed.
H Narayan; R De Chazal; M Barrow; P McKeever; E Neale
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  13     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1994-03-17     Completed Date:  1994-03-17     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  893-901     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, University of Leicester, U.K.
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MeSH Terms
Abnormalities, Multiple / ultrasonography
Fetal Diseases / genetics,  ultrasonography*
Hernia, Diaphragmatic / congenital,  genetics,  ultrasonography*
Infant, Newborn
Lung / abnormalities
Obstetric Labor, Premature
Pregnancy Outcome*
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Ultrasonography, Prenatal*

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