Publication: Thanatophoric Skeletal Dysplasia: A Case Report
Date
2020
Authors
Article Type
Case Report
Journal Title
Journal ISSN
JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X
Volume Title
Pages
Pages: 185 - 187
Publisher
Nepal Medical Association
Abstract
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.
Keywords: birth defect; micromelia; skeletal dysplasia; thanatophoric skeletal dysplasia.
Description
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
Keywords
birth defect, micromelia, skeletal dysplasia, thanatophoric skeletal dysplasia
Identifier
https://doi.org/10.31729/jnma.4488