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Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families
Author(s) -
Crane James P.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb00996.x
Subject(s) - diaphragmatic hernia , incidence (geometry) , prenatal diagnosis , medicine , congenital diaphragmatic hernia , hernia , diaphragmatic breathing , pediatrics , obstetrics , surgery , fetus , pregnancy , genetics , pathology , biology , physics , alternative medicine , optics
Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed. A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20 % versus 3 %) and a lower incidence of additional life‐threatening malformations (3.6 % versus 47 %). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.