Case series reveals important clinical features of mucopolysaccharidosis in siblings, suggesting need for early diagnosis.
Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common. Early clinical recognition is crucial, as timely diagnosis can facilitate appropriate supportive care, genetic counseling, ultimately improving quality of life.
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Bella et al. (2026) studied this question.
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