Abstract
Smith-Magenis syndrome (SMS) and Dandy-Walker malformation (DWM) are uncommon genetic conditions with nonspecific clinical features, which makes reaching a definitive diagnosis challenging. We describe here, a 2-year-old girl who was diagnosed with SMS at the age of 12 months due to delayed growth and development. The child presented to hospital with acute heart failure and respiratory failure. During the treatment process, her response was limited, and her recovery was slow. A subsequent head computed tomography (CT) scan showed abnormalities consistent with the diagnosis of comorbid DWM. We believe that this is the first reported case of a patient with SMS combined with DWM. By reporting this case, we aim to offer clinicians valuable insights into these rare diseases and provide a framework for future clinical diagnosis and treatment.
Published Version
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