Thanatophoric Skeletal Dysplasia: A Case Report
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 en...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nepal Medical Association
2020-03-01
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| Series: | Journal of Nepal Medical Association |
| Subjects: | |
| Online Access: | http://jnma.com.np/jnma/index.php/jnma/article/view/4488 |