Document Detail

Congenital complete absence (bilateral agenesis) of the diaphragm: a rare variant of congenital diaphragmatic hernia.
MedLine Citation:
PMID:  7993513     Owner:  NLM     Status:  MEDLINE    
Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral absence of the diaphragm is a very rare variant, with six cases reported in the literature. A 1040 g black male infant was born at 27 weeks' gestation to a 28-year-old black woman with a history of minimal prenatal care and cocaine abuse during pregnancy. Apgar scores were 2/1/1/0/1 at 1, 5, 10, 15, and 20 minutes, respectively and efforts to resuscitate him were unsuccessful. He died at 2 1/2 hours of age. Autopsy showed complete absence of the diaphragm, pulmonary hypoplasia, and an atrial septal defect of the heart. Cytogenetic studies showed normal male karyotype. We suggest that decreased or interrupted blood supply to the developing diaphragm of this infant may have interrupted normal embryogenesis in the early developmental stages.
K M Jasnosz; M C Hermansen; C Snider; K Sang
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of perinatology     Volume:  11     ISSN:  0735-1631     ISO Abbreviation:  Am J Perinatol     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-01-13     Completed Date:  1995-01-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8405212     Medline TA:  Am J Perinatol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  340-3     Citation Subset:  IM    
Department of Laboratory Medicine, Allegheny General Hospital, Allegheny Campus of the Medical College of Pennsylvania, Pittsburgh 15212.
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MeSH Terms
Abnormalities, Drug-Induced / pathology*
Diaphragm / abnormalities*
Heart Septal Defects, Atrial / chemically induced
Hernia, Diaphragmatic / congenital*,  pathology
Infant, Newborn
Lung / abnormalities
Pregnancy Complications*
Substance-Related Disorders / complications*
Reg. No./Substance:

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