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Liver agenesis with omphalocele: a report of two human embryos using serial histological sections
Ji Hyun Kim1, Si Eun Hwang, José Francisco Rodríguez-Vázquez
11 Department of Anatomy, Chonbuk National University Medical School, Jeonju, Republic of Korea.
Insights
Researchers discovered two 7-week-old human embryos with liver agenesis and omphalocele. This condition, characterized by diaphragm and heart abnormalities, may stem from septum transversum developmental defects.
Area of Science:
- Developmental Biology
- Embryology
- Human Anatomy
Background:
- Liver agenesis is a rare congenital anomaly.
- Omphalocele is the herniation of abdominal contents into the umbilical cord.
- The simultaneous occurrence of liver agenesis and omphalocele is exceptionally uncommon.
Purpose of the Study:
- To describe the morphological characteristics of human embryos exhibiting liver agenesis and omphalocele.
- To investigate the potential developmental etiology of combined liver agenesis and omphalocele.
- To compare atypical omphalocele in affected embryos with isolated omphalocele.
Main Methods:
- Examination of two human embryos (7 weeks gestational age, O'Rahilly's stage 21-22) with liver agenesis and omphalocele.
- Serial histological sectioning of one embryo's entire body.
- Comparative assessment of an additional embryo with isolated omphalocele.
Main Results:
- Embryos with liver agenesis showed absence of the anterior diaphragm, abnormal heart venous pole, normal stomach position, and normal pancreas development with midgut rotation.
- Histological analysis revealed specific developmental abnormalities.
- Comparison with an isolated omphalocele case highlighted atypical features in the agenesis group.
Conclusions:
- Liver agenesis combined with omphalocele in these embryos is likely caused by a defect in the anterior septum transversum's extension or migration.
- This contrasts with theories of mechanical separation of the hepatic diverticulum.
- Findings provide insights into early embryonic development and malformation.
Abstract:
We identified 2 human embryos, with crown-rump lengths (CRLs) of 22 mm and 23 mm and a gestational age of approximately 7 weeks (O'Rahilly's stage 21-22), with liver agenesis and omphalocele. Serial histological sections were prepared of the entire body of one specimen, whereas sections of the neck, including the upper part of the heart, were missed for the other specimen as a result of tissue damage during the abortion. In addition, isolated omphalocele was assessed in another embryo (CRL = 25 mm) for comparison with atypical omphalocele in the embryos with liver agenesis. The 2 embryos with liver agenesis were characterized by (1) the absence of the anterior part of the diaphragm; (2) abnormality in the venous pole of the heart; (3) a normal stomach in the left upper abdominal cavity; and (4) normal pancreas development with normal midgut rotation. The most likely cause of liver agenesis, when combined with isolated omphalocele, was a defect in the anterior extension or migration of the septum transversum rather than a mechanical separation of the hepatic diverticulum from the septum transversum.
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