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Fanconi-Albertini-Zellweger syndrome


Associated persons:
Ambrosius von Albertini
Guido Fanconi
Hans Ulrich Zellweger

Description:
The characteristic features of this syndrome include growth retardation, osteoporosis with spontaneous fractures, curving of the long bones, congenital heart defect, peculiar facies, albuminuria, metabolic acidosis, and cerebrospinal fluid changes.



Bibliography:
  • G. Fanconi, A. Albertini, H. Zellweger:
    Osteopathia acidotica pseudorachitica.
    Helvetica Paediatrica Acta, Basel, 1948, 2: 95-112.

     
 

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