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



Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Friday, September 9, 2011 10:19 am