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R. Froissart

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Open access Sep 2026

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf–Hirschhorn Syndrome: Diagnostic Overshadowing

Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α‐l‐iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf–Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment. Becaus...

Karla Cifuentes-Uribe, Sandrine Girard, R. Froissart et al. · 0 citations

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