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