Congenital diaphragmatic hernia with probable autosomal recessive inheritance in an extended consanguineous Pakistani pedigree

We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic he...

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Bibliographic Details
Published inJournal of medical genetics Vol. 34; no. 7; pp. 601 - 603
Main Authors Mitchell, S J, Cole, T, Redford, D H
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.07.1997
BMJ
BMJ Publishing Group LTD
Subjects
Biological and medical sciences
Consanguinity
Female
Fetal Death
Genes, Recessive
Hernia, Diaphragmatic - genetics
Hernias, Diaphragmatic, Congenital
Humans
Infant, Newborn
Male
Medical sciences
Pakistan
Pedigree
Pneumology
Respiratory system : syndromes and miscellaneous diseases
Pakistan
Case study
Hernia
Human
Genetic inheritance
Congenital
Respiratory muscle
Respiratory disease
Malformation
Family study
Recessive character
Diaphragm
Genetic disease
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Summary:We report four cases of congenital diaphragmatic hernia occurring in two generations of a consanguineous Pakistani family. The affected subjects resembled no recognised genetic syndrome. This family provides further evidence for possible autosomal recessive inheritance of congenital diaphragmatic hernia in some cases.
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PMID:9222974
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.34.7.601