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Fatal Outcome of Undetected Congenital Diaphragmatic Defect: Two Autopsy Cases


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1 The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
     

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Congenital diaphragmatic hernia is one of the most frequently occurring anomalies of the thorax and seen once in every 2 000 to 5 000 births. Herniation of the abdominal organs into thoracic cavity through the defect in the diaphragm takes place early in gestation resulting in varying degrees of pulmonary hypoplasia. The defect is usually in the posterolateral aspect of the diaphragm. The size and the location of the defect affect the degree of pulmonary hypoplasia and clinical presentation. In 65 to 80 % of the cases the defect is in the right hemidiaphragm.

The mortality rate of congenital diaphragmatic hernia is high despite advances in neonatal intensive care and the overall mortality rate from multiple studies is approximately 50 %.

We report a 4-year-old girl and a newborn boy died of complications resulting from congenital unilateral diaphragmatic defect. On forensic autopsy, parts of the abdominal organs were found to be in the left chest cavity and there was a defect on the left leaflet of the diaphragm in both cases. The deaths of the child and newborn were attributed to the complications of the congenital diaphragmatic defect.

These cases emphasize the importance of complete evaluation of fetuses before and after birth and follow-up of all "healthy" children.


Keywords

Congenital Defects, Diaphragm, Hernia, Child, Newborn, Pulmonary Hypoplasia, Forensic Autopsy
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  • Fatal Outcome of Undetected Congenital Diaphragmatic Defect: Two Autopsy Cases

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Authors

Yalçýn Büyük
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
Ýbrahim Üzün
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
Taþkýn Özdeþ
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
Iþýl Pakiþ
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
Ceyhun Küçük
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey
Ömer L. Özkan
The Ministry of Justice, Council of Forensic Medicine, Istanbul, Turkey

Abstract


Congenital diaphragmatic hernia is one of the most frequently occurring anomalies of the thorax and seen once in every 2 000 to 5 000 births. Herniation of the abdominal organs into thoracic cavity through the defect in the diaphragm takes place early in gestation resulting in varying degrees of pulmonary hypoplasia. The defect is usually in the posterolateral aspect of the diaphragm. The size and the location of the defect affect the degree of pulmonary hypoplasia and clinical presentation. In 65 to 80 % of the cases the defect is in the right hemidiaphragm.

The mortality rate of congenital diaphragmatic hernia is high despite advances in neonatal intensive care and the overall mortality rate from multiple studies is approximately 50 %.

We report a 4-year-old girl and a newborn boy died of complications resulting from congenital unilateral diaphragmatic defect. On forensic autopsy, parts of the abdominal organs were found to be in the left chest cavity and there was a defect on the left leaflet of the diaphragm in both cases. The deaths of the child and newborn were attributed to the complications of the congenital diaphragmatic defect.

These cases emphasize the importance of complete evaluation of fetuses before and after birth and follow-up of all "healthy" children.


Keywords


Congenital Defects, Diaphragm, Hernia, Child, Newborn, Pulmonary Hypoplasia, Forensic Autopsy

References