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Congenital visceral malformations

Last updated: January 4, 2021

Summary

Congenital visceral malformations develop during organogenesis, which occurs in the first 8 weeks after conception (embryonal period). Common malformations include anal atresia, omphalocele, gastroschisis, and biliary atresia. They may occur on their own or together with other malformations and syndromes. Anal atresia is characterized by an absent anal opening and failure to pass meconium, which may lead to an ileus or the formation of fistulas. An omphalocele is often associated with trisomies and manifests with the herniation of abdominal viscera through the abdominal wall into a hernia sac. In cases of gastroschisis, by contrast, herniated parts of the intestine are not covered by a sac, but exposed. All three conditions are clinical diagnoses and require surgery to prevent infections and further complications. In extrahepatic biliary atresia, the infant presents with prolonged neonatal jaundice, acholic stools, dark urine, and hepatomegaly. Conjugated hyperbilirubinemia and abnormalities on ultrasonography provide valuable clues for diagnosis. If extrahepatic biliary atresia remains undetected or surgery is delayed, the infant may die within the first two years of life, usually as a result of biliary liver cirrhosis.

Anal atresia

Omphalocele

Gastroschisis

Unlike in cases of omphalocele, gastroschisis does not manifest with a hernia sac.

Omphalocele keeps your gut O-sealed (covered with peritoneum), but in Gastroschisis, the Gut freezes (herniates through the abdominal wall without being covered by peritoneum).

Biliary tract malformations

Biliary atresia

Alagille syndrome

References

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  2. Imperforate Anus. https://rarediseases.org/rare-diseases/imperforate-anus/. Updated: January 1, 2007. Accessed: March 9, 2017.
  3. Anal Atresia. http://www.msdmanuals.com/professional/pediatrics/congenital-gastrointestinal-anomalies/anal-atresia. Updated: October 1, 2016. Accessed: March 9, 2017.
  4. Omphalocoele. https://radiopaedia.org/articles/omphalocoele. Updated: March 9, 2017. Accessed: March 9, 2017.
  5. Jayanthi S, Seymour P, Puntis JW, Stringer MD. Necrotizing enterocolitis after gastroschisis repair: a preventable complication?. J Pediatr Surg. 1998; 33 (5): p.705-7.