Thanatophoric Skeletal Dysplasia: A Case Report

Authors

  • Firoz Anjum Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.
  • Sunil Kumar Daha Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.
  • Ganesh Sah Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.

DOI:

https://doi.org/10.31729/jnma.4488

Keywords:

birth defect; micromelia; skeletal dysplasia; thanatophoric skeletal dysplasia.

Abstract

Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric skeletal dysplasia which resulted into death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or few days after birth.

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Published

2020-03-30

How to Cite

Anjum, F., Daha, S. K., & Sah, G. (2020). Thanatophoric Skeletal Dysplasia: A Case Report. Journal of Nepal Medical Association, 58(223), 185–187. https://doi.org/10.31729/jnma.4488

Issue

Vol. 58 No. 223 (2020): JNMA: Published Monthly

Section

Case Reports

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