Anjum, FirozDaha, Sunil KumarSah, Ganesh2026-08-142026-08-142020https://hdl.handle.net/20.500.14572/7297Firoz 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, NepalAbstract 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. Keywords: birth defect; micromelia; skeletal dysplasia; thanatophoric skeletal dysplasia.en-USbirth defectmicromeliaskeletal dysplasiathanatophoric skeletal dysplasiaArticle