“ This is the most common mucopolysaccharidosis, and it is inherited in an autosomal recessive pattern. It is associated with multiple skel...
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This is the most common mucopolysaccharidosis, and it is inherited in an autosomal recessive pattern. It is associated with multiple skeletal manifestations occurring in the first 18 months of life.
SPINE X-RAY
• Anterior central beak is relatively specific.
• Atlantoaxial subluxation due to odontoid hypoplasia.
• Platyspondyly (i.e. diffuse flattening of the vertebral bodies, which reduces distance between the endplates).
• Ovoid vertebral bodies.
• Posterior vertebral body scalloping and central beaking.
• Widened intervertebral disc space.
• Exaggeration of the lumbar lordosis.
PELVIS X-RAY
• Fragmentation and flattening of the femoral heads
• Flared iliac wings
KNEE X-RAY
• Lateral sloping of the tibial plateaux
• Genu valgus deformity
HANDS AND FEET X-RAY
• Bullet-shaped metacarpals
• Short, wide tubular bones with metaphyseal irregularity
Morquio syndrome. Lateral cervical spine x-ray demonstrating atlantoaxial subluxation and platyspondyly.
Morquio syndrome. Lateral thoracic spine x-ray demonstrating ovoid vertebral bodies, posterior vertebral body scalloping and anterior central beaking.
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