Palwasha Gul, Brig Imran Masaud, Zeenat Gul.
Morquio Syndrome: a Case Report.
Pak J Radiol Jan ;24(1):32-5.

Mor quio syndrome is an autosomal recessive condition and is mucopolysacchroidosis (MPS), type IV. It is a rare clinical condition and results from an excess of keratin sulphate in cells from a deficit in its degradation pathway. Clinical features include severe dwarfism, joint laxity, deafness, short neck, kyphoscoliosis, corneal clouding, prominent mandible and lower face and lymphadenopathy. Radiographic features show platyspondyly, atlantoaxial subluxation, os odontoideum, vertebral body beaking, hypertelorism, dolicocephaly, multiple epiphyseal centres and wide metacarpals. Life expectancy ranges from 30 – 40 years, but depends on severity of abnormalities present as some may die as early as 2 or 3 years, while others can live upto 60 or 70 years. Most common cause of death is cervical myelopathy from C2 abnormality. Patients are vulnerable to respiratory infections. We are presenting a case of Morquio Syndrome and to the best of our search this is the first reported case in a national journal. Key words: Morquios Syndrome (MS), Mucopolysacchroidosis (MPS), Autosomal recessaive

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