Document Detail

Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome.
MedLine Citation:
PMID:  12910496     Owner:  NLM     Status:  MEDLINE    
The Stuve-Wiedemann syndrome (SWS) is a congenital bone dysplasia characterized by camptodactyly with ulnar deviation and congenital bowing of the long bones. Affected patients present with respiratory difficulties in the neonatal period or later and recurrent episodes of hyperthermia. The typical radiological findings are bowing of the long bones of the lower limbs, wide metaphyses with decreased density, and abnormal trabecular pattern. Generally, respiratory insufficiency and hyperthermia are reported to be the cause of death. We report on two sibs with SWS, who died from severe pulmonary hypertension with pulmonary artery wall abnormality. We suggest a common pathophysiological process, which could explain the cardiovascular findings that we observed immediately after birth in the two affected sibs. We hypothesize that the severe pulmonary hypertension due to the arterial wall abnormality could explain the neonatal death of these two children.
Annick Raas-Rothschild; Zivanit Ergaz-Schaltiel; Jakob Bar-Ziv; Azaria J J T Rein
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Aug 
Date Detail:
Created Date:  2003-08-11     Completed Date:  2004-04-28     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  156-8     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel.
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MeSH Terms
Bone and Bones / abnormalities*,  radiography
Cardiovascular Abnormalities / complications,  physiopathology*
Fatal Outcome
Fever / pathology
Hypertension, Pulmonary / physiopathology*
Infant, Newborn
Osteochondrodysplasias / genetics,  pathology*,  radiography
Pulmonary Artery / abnormalities*,  radiography
Respiratory Insufficiency / pathology

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