Fanconi-Albertini-Zellweger syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Cafer Zorkun, M.D., Ph.D. [2], Raviteja Guddeti, M.B.B.S.[3]

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Overview

A rare syndrome that is typically characterized by congenital heart defects, brain abnormalities, osteoporosis, blood abnormalities, unusual facial characteristics, and metabolic acidosis.