Abstract
The Canadian College of Medical Genetics recently questioned the rationale for radiographic screening for atlantoaxial instability in Down syndrome. We report a case series of four children with Down syndrome with symptomatic atlantoaxial instability and followed for more than 5 years. In all cases a medical or rehabilitational procedure was associated with significant apnea, cardiopulmonary compromise, or severe neurological impairments. None of these patients were screened radiographically. The need for protocols to detect atlantoaxial instability in children with Down syndrome undergoing medical and rehabilitational procedures is highlighted by these cases.
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