A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report
Year: 2026
Type: article
Study design: Case Report
Abstract: 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.
DOI: 10.1111/jpc.70418
Institutions: Tokyo Metropolitan Children's Medical Center, Keio University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7160708237