Related Experiment Video
Updated: May 14, 2026

Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation
Beena D Kamath-Rayne1, Howard Saal, Stephanie Lang
1Division of Neonatology and Pulmonary Biology, Center for Molecular Fetal Therapy, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. Beena.Kamath-Rayne@cchmc.org
Background:
Pulmonary hypoplasia resulting from oligohydramnios or anhydramnios can cause severe respiratory compromise in newborn patients. We report a case of recurrent oligohydramnios in a mother with an ErbB4 mutation and speculate that the effects on the placenta through decreased vascularization contributed to oligohdyramnios and subsequent pulmonary hypoplasia in the newborn.
Case:
The pregnant mother in this case had two subsequent term pregnancies complicated by severe oligohydramnios. Both pregnancies resulted in live born female neonates with pulmonary hypoplasia, pneumothoraces, and pulmonary hypertension. The mother and second newborn, who died, were found to have the ErbB4 mutation. Examination of the placenta with that pregnancy showed decreased vascularity.
Conclusion:
ErbB4 may have important effects on placental development and hydramnios that also may affect neonatal pulmonary hypoplasia.
Related Concept Videos
Teratogenicity
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme (ECE). Of...
Pulmonary Hypertension: Classification and Pathogenesis
There are various classifications for PH, each relating to different underlying causes and also...
Chronic Obstructive Pulmonary Disease II: Emphysema

