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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 579-581 
    ISSN: 1432-1076
    Keywords: Congenital or infantile fibrosarcoma ; Numerical chromosome changes ; Chromosome 11
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Chromosome analysis of a congenital or infantile fibrosarcoma from the lower left leg of a 3-week-old baby girl showed only numerical changes involving chromosomes 11, 17 and 20. As three more cases with similar combinations of trisomies of the same chromosomes have been described, this report confirms that adult and congenital fibrosarcoma are cytogenetically different and trisomy 11 may be the key-event.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Renal-hepaticpancreatic dysplasia ; Congenital hepatic fibrosis ; Liver cirrhosis ; Combined liver-kidney transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract We report two brothers with renal dysplasia and congenital hepatic fibrosis. One patient died shortly after birth of lung hypoplasia. The second developed end-stage renal failure at 14 months. The hepatic fibrosis progressed to cirrhosis and hepatic failure. Pancreatic function was normal, but increased echogenicity was seen on ultrasound. At age 3 years and 9 months a successful combined liver-kidney transplantation was performed. The features of our patients are compatible with the “renal-hepatic-pancreatic dysplasia” syndrome. Conclusion Renal-hepatic-pancreatic dysplasia is an autosomal recessive disorder with variable expression. Combined liver-kidney transplantation offers a new therapeutic option.
    Type of Medium: Electronic Resource
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