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The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

Keywords: Osteogenesis imperfecta , spinal muscular atrophy , hypotonia

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Abstract:

ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA) type I was diagnosed.

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