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.

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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Published

2024-01-16

Issue

Vol. 3 No. 6 (2): Vol. 3 No. 6 (2023): One Health Journal of Nepal - Volume 3 - Number 6

Section

Case Report

License

Copyright (c) 2024 One Health Journal of Nepal

Creative Commons License

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