Abderhalden-Kaufmann-Lignac syndrome history and symptoms
Jump to navigation
Jump to search
Template:Abderhalden-Kaufmann-Lignac syndrome
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
History and Symptoms
Presentation
Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia.Cysteine deposition is most evident in the conjunctiva and cornea.
