| Familial congenital diaphragmatic hernia: prenatal diagnosis, management, and outcome. | |
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MedLine Citation:
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PMID: 8309897 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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H Narayan; R De Chazal; M Barrow; P McKeever; E Neale |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Prenatal diagnosis Volume: 13 ISSN: 0197-3851 ISO Abbreviation: Prenat. Diagn. Publication Date: 1993 Oct |
Date Detail:
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Created Date: 1994-03-17 Completed Date: 1994-03-17 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 893-901 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynaecology, University of Leicester, U.K. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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ultrasonography Adult Female Fetal Diseases / genetics, ultrasonography* Hernia, Diaphragmatic / congenital, genetics, ultrasonography* Humans Infant, Newborn Lung / abnormalities Male Obstetric Labor, Premature Pedigree Pregnancy Pregnancy Outcome* Pregnancy Trimester, Second Pregnancy Trimester, Third Ultrasonography, Prenatal* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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