Document Detail

Infant with midline thoracoabdominal schisis and limb defects.
MedLine Citation:
PMID:  9839359     Owner:  NLM     Status:  MEDLINE    
An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity. The infant expired soon after birth. The radiological findings included absence of the sternum, 11 right-sided ribs, absence of the middle third of the right clavicle, opaque right hemithorax, hypoplastic right tibia, absent right fibula and foot, and ectrodactyly of the right hand and left foot. In addition, the autopsy revealed two distinct diaphragmatic defects, an anterior midline defect of the diaphragm beneath the ectopic heart, and a large Bochdalek hernia, with abdominal contents in the chest. Our case has overlapping features with conditions such as thoracoabdominal syndrome, pentalogy of Cantrell, and limb-body wall complex, but the concurrence of midline body wall defect and ectrodactyly has not been described previously.
E K Pivnick; R A Kaufman; G V Velagaleti; W M Gunther; D Abramovici
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Teratology     Volume:  58     ISSN:  0040-3709     ISO Abbreviation:  Teratology     Publication Date:  1998 Nov 
Date Detail:
Created Date:  1999-02-17     Completed Date:  1999-02-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0153257     Medline TA:  Teratology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  205-8     Citation Subset:  IM    
Department of Pediatrics, College of Medicine, University of Tennessee, Memphis 38163, USA.
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MeSH Terms
Abdomen / abnormalities
Abnormalities, Multiple / pathology*
Diaphragm / abnormalities
Fatal Outcome
Infant, Newborn
Limb Deformities, Congenital / radiography
Sternum / abnormalities
Thoracic Vertebrae / abnormalities,  radiography

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

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