Fanconi-Albertini-Zellweger syndrome
Related people
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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