Chondrodysplasia Punctata: A Case Report

Authors

  • Saurav Khetan Department of Paediatrics, Sumeru Dhapakhel, Kathmandu, Nepal.
  • Rohit Gahlawat Department of Paediatrics, Aagyapal Advanced Care Hospital, Panipat, India.
  • Prerana Kansakar Department of Paediatrics, Patan Academy of Health Sciences, Kathmandu, Nepal.

DOI:

https://doi.org/10.3126/ohjn.v3i6.63337

Keywords:

Chondrodysplasia Punctata, Genetic Disorder, Skeletal Abnormalities,, Developmental Anomalies, Genetic Counselling

Abstract

Chondrodysplasia Punctata (CDP) is a genetic disorder with skeletal and developmental abnormalities. This case report describes the clinical features, diagnostic evaluation, management, and genetic counselling of patients with CDP. This report aimed to increase awareness about this condition and importance of early diagnosis, multidisciplinary management care, and genetic counselling for better patient outcomes.

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Abstract
42

Published

2024-03-03

How to Cite

Khetan, S. ., Gahlawat, R. ., & Kansakar, P. . (2024). Chondrodysplasia Punctata: A Case Report. One Health Journal of Nepal, 3(6), 30–32. https://doi.org/10.3126/ohjn.v3i6.63337

Issue

Vol. 3 No. 6 (2023)

Section

Case Reports

License

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.