Recognizing and Avoiding the Misdiagnosis of Esquirol-Séguin-Down Syndrome in Clinical Practice: A Clinical Imperative
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Abstract
Esquirol-Séguin-Down syndrome (Trisomy 21) is the most common chromosomal disorder with
well-defined clinical features, but misdiagnosis is still common in clinical practice. This leads to
unnecessary distress, delayed interventions, and inappropriate management. This article explores common
reasons for misdiagnosis, using a clinical case example, and discusses strategies for improving diagnostic
accuracy. A focused educational approach can enhance awareness and prevent misdiagnosis, ultimately
improving patient outcomes.
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