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congenital diaphragmatic hernia

MIM.142340

 

Congenital diaphragmatic hernia occurs about once in each 3,000 newborns and is associated with a 30 to 60% mortality rate with significant morbidity among survivors.

The pathologic consequences of CDH result from the abdominal contents entering the thoracic cavity. Hypoplasia of the lung due to decreased thoracic volume compromises pulmonary capacity and often results in neonatal death.

Types

-  paravertebral type (Bochdalek type)
-  parasternal type (Morgagni type)
-  central diaphragmatic hernia (septum transversum)

Etiology

-  non-syndromic congenital diaphragmatic hernia

-  syndromic congenital diaphragmatic hernia

Cytogenetics

-  del(8)(p23.1) (#15255033#)
-  der(22)t(11:22) (q23.3:q11.2) (#15255033#)
-  15q26

Associations

-  +i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome)(#15255033#)
-  complete trisomy 9 (#15229846#)
-  4p- (Wolf-Hirschhorn syndrome)

Animal models

-  Knock-out mice

Associations

-  pulmonary anomalies

-  cardiovascular anomalies

-  gastrointestinal anomalies

-  genitourinary anomalies

-  polymalformative syndrome

-  miscellaneous

References

-  Wilcox DT, Irish MS, Holm BA, Glick PL. Pulmonary parenchymal abnormalities in congenital diaphragmatic hernia. Clin Perinatol. 1996 Dec;23(4):771-9. PMID: #8982570#


Congenital diaphragmatic hernia - The left lobe of the liver is in the left hemithorax.

Congenital diaphragmatic hernia - The left lobe of the liver is in the left hemithorax.

Bilateral congenital diaphragmatic hernia - The left hemidiaphragm is almost agenetic. The left lobe of the liver is in the left hemithorax. The right hemidiaphragm is hypoplastic with a central hernia.

Bilateral lung hypoplasia in bilateral congenital diaphragmatic hernia

Bilateral lung hypoplasia in bilateral congenital diaphragmatic hernia

Bilateral diaphragmatic defect - Left hemidiaphragm complete agenesis and right hemidiaphragm partial agenesis

Left diaphragmatic hernia in a probable Fryns syndrome (24 weeks) - (Cleft lip/palate, camptodactyly, low set ears, toes hypoplasia associated)

Left diaphragmatic hernia in a probable Fryns syndrome (24 weeks) - (Cleft lip/palate, camptodactyly, low set ears, toes hypoplasia associated)

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