Congenital Diaphragmatic Hernia
Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.
Co se diagnózou změní
Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.
Známé také jako
agenesis of hemidiaphragm; CDH; congenital diaphragmatic defect; diaphragmatic hernia; unilateral agenesis of diaphragm
Zahrnuje 5 příbuzných podtypů ↓Skrýt podtypy ↑
- diaphragmatic hernia 1
- diaphragmatic hernia 2
- diaphragmatic hernia 3
- diaphragmatic hernia 4, with cardiovascular defects
- hernia, anterior diaphragmatic
