- 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;
