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[Moderated form of Morquio syndrome: an unknown cause of short stature (three case reports)].

by: A. Oulahiane, N. Elhaddad, H. Ouleghzal, A. Gaouzi
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie, Vol. 18, No. 9. (September 2011), pp. 979-982, doi:10.1016/j.arcped.2011.06.021  Key: citeulike:9626726

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Abstract

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder. Copyright © 2011. Published by Elsevier SAS.


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