Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation.
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.


METHODS
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.


CONCLUSIONS
ErbB4 may have important effects on placental development and hydramnios that also may affect neonatal pulmonary hypoplasia.
Division 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
Beena D
BD
Kamath-Rayne
Howard
H
Saal
Stephanie
S
Lang
Mounira
M
Habli
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D066246:ErbB Receptors / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000151:congenital; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D008171:Lung Diseases / Q000151:congenital / Q000235:genetics*; D009154:Mutation; D016104:Oligohydramnios / Q000235:genetics*; D010920:Placenta / Q000098:blood supply / Q000378:metabolism; D011030:Pneumothorax / Q000151:congenital; D011247:Pregnancy; D066247:Receptor, ErbB-4; D012008:Recurrence
C587689:ERBB4 protein, human; D066246:ErbB Receptors; D066247:Receptor, ErbB-4