Document Detail

Bilateral diaphragmatic defect and associated multiple anomalies.
MedLine Citation:
PMID:  19299227     Owner:  NLM     Status:  MEDLINE    
Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old mother with a history of minimal prenatal care. Polyhydramnios was reported on prenatal level 1 scan. The patient experienced early respiratory distress requiring intubation. Apgar scores were 2/1/1 at 1, 5 and 20 minutes, respectively, and efforts to resuscitate him were unsuccessful. He died at 2 hours of age. Autopsy revealed bilateral diaphragmatic agenesis associated with right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities and gallbladder agenesis. Cytogenetic studies showed normal male karyotype. Bilateral agenesis of the diaphragm is a life-threatening malformation. Survival of these infants often depends on cardiopulmonary function. Bilateral agenesis of the diaphragm associated with gallbladder and unilateral pulmonary agenesis is a rare entity, and its clinical significance needs further investigation.
Leyla Karadeniz; Sirin Guven; Enver Atay; Fahri Ovali; Aysenur Celayir
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Chinese Medical Association : JCMA     Volume:  72     ISSN:  1726-4901     ISO Abbreviation:  J Chin Med Assoc     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-03-20     Completed Date:  2009-07-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101174817     Medline TA:  J Chin Med Assoc     Country:  China (Republic : 1949- )    
Other Details:
Languages:  eng     Pagination:  163-5     Citation Subset:  IM    
Department of Pediatrics, Zeynep Kamil Maternity and Children's Research Hospital, Istanbul, Turkey.
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MeSH Terms
Abnormalities, Multiple*
Diaphragm / abnormalities*
Infant, Newborn

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