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. Author manuscript; available in PMC: 2008 Jan 4.
Published in final edited form as: Ann Med. 2007;39(4):261–274. doi: 10.1080/07853890701326883

Figure 4. Examples of extradiaphragmatic defects associated with CDH in humans and mice with known gene defects.

Figure 4

A) Computed tomography of a girl with a homozygous E57K mutation in the fibulin-4 gene. Note the tortuous aorta and elevated left hemidiaphragm. At 10 months of age she underwent diaphragmatic plication; surgical observations included arterial tortuosity, emphysematous lungs, and scant diaphragmatic musculature. B) H&E stained section of right lung from a 1-day-old C57Bl/6 mouse heterozygous for a Gata4 deletion mutation (Gata4+/Δ). Note the enlarged distal airspaces and thickened mesenchyme, presumed to represent a primary defect in lung development. Bar, 200 μm. C,D) H&E stained sections of hearts from two 1-day-old C57Bl/6 Gata4+/Δ mice. Panel C shows a large membranous ventricular septal defect (VSD) with secundum atrial septal defect (ASD). Panel D shows a transitional atrioventricular canal (primum ASD, cleft mitral valve, inlet VSD). Bars, 300 μm. Other abbreviations: Ao, aorta; AoV, aortic valve; MV, mitral valve; R, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle; TV, tricuspid valve.