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- Firoz Anjum, Sunil Kumar Daha, and Ganesh Shah.
- Department of Pediatrics, Patan Academy of Health Sciences, School of Medicine Patan Hospital, Lalitpur, Nepal.
- JNMA J Nepal Med Assoc. 2020 Mar 1; 58 (223): 185-187.
AbstractThanatophoric skeletal dysplasiais 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 in the death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or a few days after birth.
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