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Thanatophoric Skeletal Dysplasia: A Case Report
Firoz Anjum1, Sunil Kumar Daha1, Ganesh Shah1
1Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.
JNMA; Journal of the Nepal Medical Association
|April 30, 2020
Summary
Thanatophoric skeletal dysplasia, a rare lethal birth defect caused by fibroblast growth factor receptor-3 mutations, presents with severe skeletal abnormalities. This case highlights the condition
Area of Science:
- Medical Genetics
- Developmental Biology
- Skeletal Dysplasias
Background:
- Thanatophoric skeletal dysplasia is a rare, lethal autosomal dominant skeletal disorder.
- It results from de novo mutations in the fibroblast growth factor receptor-3 (FGFR3) gene.
- Characterized by severe micromelia, macrocephaly, and a narrow thorax.
