Case report highlights early recognition challenges of chondrodysplasia punctata in infants, suggesting targeted imaging approaches.
Learning Points This case demonstrated that CDP may initially present during infancy with nonspecific symptoms or cervical myelopathy even in the absence of short stature and short limbs, which can delay diagnosis. Because subjectivity and potential ethnic variations hamper the assessment of nasal morphology, both the frontal and lateral views should be assessed for the early recognition of CDP. Imaging studies, protective immobilization, and careful timing of surgery are essential to manage cervical spine abnormalities in CDP effectively.
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Matsuda et al. (2026) studied this question.
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