A 5-year-old boy with a chromosome-9 abnormality and multiple external and visceral malformations was found in cardiopulmonary arrest during a regular visit to the hospital; he did not respond to cardiopulmonary resuscitation and died. An odontoid process fracture and calcification and fibrosis of the muscles around the superior cervical vertebra were observed during the autopsy. Postmortem computed tomography revealed an anterior dislocation of the atlas; odontoid synchondrosis fracture; and delayed, incomplete bony fusion of the odontoid process relative to his age. The cause of his death was a superior spinal cord injury. The tissue surrounding the upper cervical spine presented with myositis ossificans, suggesting a prior injury. He experienced a minor traffic accident 3 months before his death. It was concluded that the odontoid synchondrosis fracture occurred during the accident based on the incomplete bony fusion and atlantoaxial instability, which were consistent with the findings of myositis ossificans. Delayed fatal dislocation may then have occurred under the influence of a minor external force. Odontoid process abnormalities and atlantoaxial instability are common in patients with trisomy 21 and other congenital diseases; however, the condition's association with chromosome-9 abnormalities has not been reported. In children with various chromosomal abnormalities, periodic assessment of instability and morphology of the cervical spine, and a lowered examination threshold for the children at risk, could prove useful in the prevention injuries leading to fatality, and provide additional information to rule out abuse.
Keywords: Autopsy; Child abuse; Chromosome-9 abnormality; Odontoid synchondrosis fracture; Postmortem computed tomography; Upper cervical spinal injury.
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