A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights

巴勒斯坦一例罕见的莫尔基奥综合征病例:临床、放射学和遗传学见解

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Abstract

Morquio A syndrome, also known as mucopolysaccharidosis type IVA (MPS IVA), is a rare lysosomal storage disorder that mostly affects the skeletal system. It spares cognitive function but causes short stature, increasing deformities and anomalies in the joints, as well as respiratory, cardiac, dental, hearing, and vision problems. This report describes a six-year-old boy with growth retardation and skeletal deformities, and highlights the characteristic clinical features, diagnostic approach, and challenges in the management of MPS IVA, emphasizing the importance of early recognition and comprehensive treatment strategies to optimize patient outcomes.

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