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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