Morquio’s Syndrome

Discussion

• short trunk disproportionate dwarfism is established by age of 2 or 3 and progresses;
• inherited as autosomal recessive trait;
• children have normal intelligence and survive well into adulthood;
• pectus carinatum is also apparant;
• other problems include corneal opacity and abnormal dentition;
• type of mucopolysaccharidoses in which keratan sulfate accumulates in the tissues;
  • measurement of keratan sulfate in the urine will help confirm the diagnosis;

Diff Dx

• spondyloepiphyseal dysplasia congenita may be confused with Morquio's syndrome;
  • x-ray manifestations of Morquio's disease include wide flaring of ilium, no delay in pubic ossification, shallow acetabula, coxa valga,
    and severe involvement of hands and feet;

Radiographs

• flaring of ilia, no delay in pubic ossification, shallow acetabula, coxa valga, and severe involvement of the hand and feet;

Orthopaedic Manifestations

• significant osseous involvement resulting in dysostosis multiplex & very short stature;
• cervical spine:
  • basilar impression;
  • atlantoaxial instability:
    • potentially most severe orthopaedic problem;
    • occurs secondary to odontoid hypoplasia and ligamentous laxity;
    • myelopathy may occur at age 5 or 6 years, causing a gradual loss of walking ability;
• spine:
  • either scoliosis or kyphosis may develop;
  • platyspondyly is common;
  • platyspondyly & thoracolumbar kyphosis may also lead to myelopathy;
  • spinal fusion may be necessary at an early age;
  • iliac crest has been shown to be a poor source of bone in these individuals;
• hip and knee:
  • dysplastic hips;
  • severe genu valgus results from significant ligamentous laxity