71% of Morquio A subjects ≤ 18 years are below 3rd percentile in height. Short stature is a characteristic feature of Morquio A Growth retardation in Morquio A Hypoplastic carpal ossification 8 year old Morquio A Image courtesy of Ralph Lachman, MD. Hands: Normal Image courtesy of Ralph Lachman, MD Short, thick clavices 8 year old Morquio A Image courtesy of Christina Lampe, MD. Thorax: Normal Image courtesy of Ralph Lachman, MD Ankle valgus 8 year old Morquio A Image courtesy of Ralph Lachman, MD 6 year old Morquio A Image courtesy of Klane White, MD White, Curr Orthop Prac, 2012. Hips and lower extremities: Dysostosis multiplex 
Hips: Normal Image courtesy of Ralph Lachman, MD
Thoracolumbar kyphosis Solanki et al, J Inherit MetabDis, 2013. Spine: Normal Image courtesy of Ralph Lachman, MD Key radiographic findings in Morquio A Dysostosis multiplex (Findings vary and can be subtle) Identification of biomarkers is critical for elucidation of pathogenesis Articular cartilage chondrocyte in (A) control, (B) Morquio A patient Collagen fibrils in articular cartilage of (A) control, (B) Morquio A patient Bank et al, Mol Genet Metab, 2009 Dvorak-Ewell et al, PLoS, 2010 Bank et al, Mol Genet Metab, 2009 De Franceschi et al, Osteoarthritis Cartilage, 2007 Kalteis et al, Arthroscopy, 2005 McClure et al, Pathology, 1986. Thicker, irregularly shaped collagen fibrils. Increased Type I collagen and reduced Type II collagen. Articular cartilage is altered in Morquio A patients:. Morquio A disrupts normal development and maturation of cartilage and bone Musculoskeletal abnormalities are the most common presenting symptoms in Morquio A Common initial presenting symptoms in Morquio A n = 326 subjects Montano et al, J Inherit MetabDis, 2007 International Morquio A Registry 
Musculoskeletal abnormalities are the most common presenting features in Morquio A % Subjects n = 325 subjects Data based on medical history reviews MorCAP Baseline data Harmatz et al, Mol Genet Metab, 2013 Weak hand grip Left image: Kalteis et al, Arthroscopy, 2005 Top and bottom right images: Atinga et al, J Bone Joint Surg Br, 2008.
Morquio A patients present with marked musculoskeletal abnormalities Morquio A: Musculoskeletal manifestations
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