Abderhalden-Kaufmann-Lignac syndrome history and symptoms

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Template:Abderhalden-Kaufmann-Lignac syndrome

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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.

File:Autorecessive.svg

References

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