A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report

Résumé fourni par la source

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.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.