Isolated diaphragmatic defect in three sibs.
We describe three sisters with unilateral agenesis of the diaphragm. No other anomalies were present. As a developmental field defect, diaphragmatic defect is, by definition, causally heterogeneous, and may be seen in several syndromes. Whereas most isolated diaphragmatic defects are likely multifactorially determined, monogenic forms seem to exist.
Toriello
H V
HV
Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.
Landenburger
G
G
Kapur
S J
SJ
Higgins
J V
JV
D000013:Congenital Abnormalities / Q000235:genetics; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome