Article: Morquio Syndrome in Two Siblings: A Case Report
Abstract:
Morquio syndrome is a rare inherited autosomal recessive disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues. It is rare cause of dwarfism. Many pediatricians therefore are unlikely to see this case hence may miss the diagnosis due to lack of experience. With this view we report two siblings with this dwarfism highlighting the classical clinical and radiological presentation.
KK Malla
Associate Professor, Manipal College of Medical Sciences, Pokhara
T Malla
Assistant Professor, Manipal College of Medical Sciences, Pokhara
S Basnet
Lecturer, Manipal College of Medical Sciences, Pokhara
KS Rao
Professor and Head of Department of Paediatrics, Manipal College of Medical Sciences, Pokhara
PK Tiwari
Professor and Head of Department of Radiology, Manipal College of Medical Sciences, Pokhara
A Ghosh
Associate Professor, Department of Pathology, Manipal College of Medical Sciences, Pokhara
N KC
Medical Officer, Manipal College of Medical Sciences, Pokhara
Keywords
Mucopolysaccharidosis, Morquio syndrome
Identifier
https://doi.org/10.3126/jnps.v31i1.3541
Citation
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