A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investiga...

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Bibliographic Details
Main Authors: Annalisa Di Cesare, Alessandra Di Cagno, Stefano Moffa, Paolucci Teresa, Innocenzi Luca, Arrigo Giombini
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2012/324596