Abderhalden-Kaufmann-Lignac syndrome history and symptoms: Difference between revisions
Jump to navigation
Jump to search
(#REDIRECT Presentation) |
|||
| Line 6: | Line 6: | ||
==History and Symptoms== | ==History and Symptoms== | ||
===Presentation=== | ===Presentation=== | ||
Affected children are developmentally delayed with [[dwarfism]], [[osteomalacia|rickets]] and [[osteoporosis]]. Renal tubular disease is usually present causing [[Acquired renal aminoaciduria|aminoaciduria]], [[glycosuria]] and [[hypokalemia]]. | Affected children are developmentally delayed with [[dwarfism]], [[osteomalacia|rickets]] and [[osteoporosis]]. Renal tubular disease is usually present causing [[Acquired renal aminoaciduria|aminoaciduria]], [[glycosuria]] and [[hypokalemia]].[[Cysteine]] deposition is most evident in the [[conjunctiva]] and [[cornea]]. | ||
[[Cysteine]] deposition is most evident in the [[conjunctiva]] and [[cornea]]. | |||
[[Image:autorecessive.svg|thumb|right|Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.]] | [[Image:autorecessive.svg|thumb|right|Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.]] | ||
Latest revision as of 20:23, 28 September 2012
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.
