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Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation.
Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia.A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to enter into the thoracic cavity.
Although congenital diaphragmatic hernia is a common finding in both syndromes, bilateral congenital diaphragmatic hernia had been reported only in patients with Fryns syndrome until the report of the patient with Pallister–Killian syndrome by Veldman et al. (2002). [11]
Causes of pulmonary hypoplasia include a wide variety of congenital malformations and other conditions in which pulmonary hypoplasia is a complication. [1] These include congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, fetal hydronephrosis, caudal regression syndrome, mediastinal tumor, and sacrococcygeal teratoma with a large component inside the fetus.
Diaphragmatic hernia; This is a photo of a peritoneopericardial diaphragmatic hernia in a cat. The photo was taken during necropsy from the right side of the cat. To the left is the abdomen, where part of the liver and the gall bladder can be seen. The diaphragm is in the middle. To the right is the thorax.
Congenital diaphragmatic hernia (CDH), in this case, the upward displacement of the diaphragm and abdominal organs, is a possible clinical outcome detectable before birth. [7] The displacement is caused by organ herniation occupying the empty space in the chest wall, while this space is created by the absence of lung tissue. [7]
The existence of this foramen might cause a congenital diaphragmatic hernia, Bochdalek hernia. This condition has also been associated with thoracic kidney, the presence of the kidney in the thorax instead of the usual abdominal position.
Congenital Diaphragmatic Hernia: Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia [31] Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia [32] Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia [33]