Musculoskeletal CT Appearances

Morquio Syndrome CT Findings

• Odontoid hypoplasia
• Barrel-shaped chest wall with pectus carinatum
• Paddle-shaped ribs
• Skeletal dysplasia
• Anteroinferior beaking L1-L3 (“gibbus deformity”)
• Vertebrae ossification (may have “bone in bone” appearance)
• Widened disc space
• Irregular endplates
• Spinal canal stenosis
• Spinal cord compression
• Femoral head necrosis and flattening

Other Information About Morquio Syndrome

Etiology:

• Genetic (autosomal recessive)
• Congenital

Epidemiology:

• Very rare

Presentation:

• Skeletal growth abnormalities
• Short stature
• Hypermobile joints
• Genu valgum
• Odontoid process
• Scoliosis or kyphosis
• Cloudy corneas

Prognosis:

• Morquio Syndrome has no cure but symptoms can be managed
• Morquio Syndrome severely decreases life expectancy