A Male Infant With Chondrodysplasia Punctata Presenting With Apnea and Growth Faltering: A Case Report
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.
Authors
- Yuko Tsujioka (ORCID: https://orcid.org/0000-0003-1373-8277)
- Toshiki Nakamura (ORCID: https://orcid.org/0009-0007-8725-6277)
- Maya Kono (ORCID: https://orcid.org/0000-0002-4162-5811)
- Satoshi Ihara (ORCID: https://orcid.org/0000-0003-3767-102X)
- Mikako Enokizono (ORCID: https://orcid.org/0000-0002-8652-5742)
- Kentaro Fukuda (ORCID: https://orcid.org/0000-0002-2003-1512)
- Hiroshi Sakakibara (ORCID: https://orcid.org/0000-0003-3904-7087)
- Reina Matsuda (ORCID: https://orcid.org/0009-0007-7792-8519)
Institutions
- Keio University (JP)
- Tokyo Metropolitan Children's Medical Center (JP)
Publication Details
- Journal
- Journal of Paediatrics and Child Health
- Published
- 2026-05-08
- DOI
- https://doi.org/10.1111/jpc.70418
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00