- A dictionary of medical eponyms

Fanconi-Albertini-Zellweger syndrome

Related people

A syndrome of congenital heart defect, osteoporosis with spontaneous fractures , curving of the long bones, growth retardation, and other anomalies.

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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