Document Detail

Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation.
MedLine Citation:
PMID:  23344421     Owner:  NLM     Status:  MEDLINE    
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.
Beena D Kamath-Rayne; Howard Saal; Stephanie Lang; Mounira Habli
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  121     ISSN:  1873-233X     ISO Abbreviation:  Obstet Gynecol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-24     Completed Date:  2013-04-02     Revised Date:  2014-05-05    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  499-501     Citation Subset:  AIM; IM    
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MeSH Terms
Abnormalities, Multiple / genetics*
Hypertension, Pulmonary / congenital
Infant, Newborn
Lung / abnormalities
Lung Diseases / congenital,  genetics*
Oligohydramnios / genetics*
Placenta / blood supply,  metabolism
Pneumothorax / congenital
Receptor, Epidermal Growth Factor / genetics*,  metabolism
Grant Support
Reg. No./Substance:
EC, Epidermal Growth Factor; EC tyrosine-protein kinase erbB-4

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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