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Semin Liver Dis 2003; 23(2): 195-200
DOI: 10.1055/s-2003-39950
Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Hepatic Manifestations of Jeune Syndrome (Asphyxiating Thoracic Dystrophy)

Lisa M. Yerian1 , Lynda Brady2 , John Hart3
  • 1Pathology Resident, Department of Pathology, University of Chicago Hospitals, Chicago, Illinois
  • 2Department of Pediatrics, University of Chicago Hospitals, Chicago, Illinois
  • 3Department of Pathology, University of Chicago Hospitals, Chicago, Illinois
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Publication History

Publication Date:
11 June 2003 (online)

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ABSTRACT

Asphyxiating thoracic dystrophy, or Jeune syndrome, is an autosomal recessive skeletal dysplasia with multiorgan involvement. Most patients develop progressive respiratory insufficiency related to the abnormally small thorax and renal insufficiency. Other clinical manifestations include cystic lesions of the pancreas and retinal abnormalities. Hepatic abnormalities have been described both clinically and at autopsy, but the pathogenesis of the liver disease is not clear. A patient with Jeune syndrome developed complications because of progressive portal hypertension necessitating transplantation. We present a discussion of the gross and histopathologic findings in the explanted liver, along with a review of the pathology of liver disease in Jeune syndrome.

KEYWORDS

Jeune syndrome - asphyxiating thoracic dystrophy - liver

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