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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)
- Central CDH occurs in the midline of the septum transversum and accounts for 1 to 2% of the total cases of CDH.
Etiology
non-syndromic congenital diaphragmatic hernia
- familial forms of CDH (#6993337#)
-
chromosomal anomalies (+/- 15%)
- 15q24-q26 anomalies (deletion, unbalanced translocations) (#15057983#, #15539876#)
syndromic congenital diaphragmatic hernia
Cytogenetics
del(8)(p23.1) (#15255033#)
der(22)t(11:22) (q23.3:q11.2) (#15255033#)
15q26
- 15q24-q26 anomalies (deletion, unbalanced translocations) (#15539876#)
Associations
+i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome)(#15255033#)
complete trisomy 9 (#15229846#)
4p- (Wolf-Hirschhorn syndrome)
Animal models
Knock-out mice
- SLIT3 KO mice (MIM.603745) (#9693030#)
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#

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

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