Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome
SA Journal of Radiology
| Field | Value | |
| Title | Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome | |
| Creator | parashari, umesh chandra khanduri, sachin bhadury, samarjit rawat, sugandha | |
| Description | Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III (Sanfilippo's syndrome), MPS IV (Morquio-Brailsford syndrome), MPS I-S (Scheie's syndrome) and MPS VI (Maroteaux-Lamy syndrome). The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings. | |
| Publisher | AOSIS | |
| Date | 2012-02-07 | |
| Identifier | 10.4102/sajr.v16i1.233 | |
| Source | South African Journal of Radiology; Vol 16, No 1 (2012); 32-34 2078-6778 1027-202X | |
| Language | eng | |
| Relation |
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