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International Journal of Physical Medicine & Rehabilitation

International Journal of Physical Medicine & Rehabilitation
Open Access

ISSN: 2329-9096

Sharma VP

Sharma VP

India

Publications
  • Case Report
    Spectrum of Skeletal and Non-Skeletal Manifestations of Morquio A Syndrome in an Adult: A Case Report
    Author(s): Sharma VP and Sharma K ArvindSharma VP and Sharma K Arvind

    Morquio syndrome is an autosomal recessive mucopolysaccharidosis which includes type IVA, a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. We report a 28-year-old Indian male patient affected by Morquio A syndrome demonstrating the characteristic musculoskeletal and nonskeletal manifestations of this disease on clinical and radiological examination. Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done. The main abnormalities were atlantoaxial subluxation, anterior beaking of the vertebrae with thoracolumbar kyphosis, platyspondyly, hypoplasia of the odontoid process, short thorax with wide anterior posterior diameter, genu valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Based on clin.. Read More»
    DOI: 10.4172/2329-9096.1000291

    Abstract PDF

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