Congenital defects of C1 arches and odontoid process in a child with Down's syndrome: A case presentation

Area of Science:

• Pediatric Orthopedics
• Medical Imaging
• Genetics and Rare Diseases

Background:

• Down syndrome is associated with an increased risk of atlantoaxial instability.
• Congenital defects of the atlas (C1) and axis (C2) vertebrae are rare but can lead to significant spinal issues.

Observation:

• A 2-year-old child with Down syndrome presented with torticollis.
• Imaging revealed rare anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation.

Findings:

• Conservative management for 3 years resulted in no neurological deficits or worsening of the subluxation.
• This case underscores the possibility of successful conservative treatment for rare C1/C2 vertebral anomalies in Down syndrome.

Implications:

• The findings suggest that conservative management may be a safe and effective option for certain pediatric cases of Down syndrome with congenital C1/C2 vertebral defects and atlantoaxial subluxation.
• This case contributes to understanding the spectrum of spinal abnormalities in Down syndrome and informs management strategies for rare congenital vertebral malformations.