Abstract
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.
Keywords
Publication details
- DOI
- 10.5001/omj.2011.47
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Naveen, N., Murlimanju, B., Kumar, V., Pulakunta, T., & H, J. (2011). Thanatophoric Dysplasia: A Rare Entity. Oman Medical Journal. https://doi.org/10.5001/omj.2011.47
MLA 9
Naveen, N.S., et al. "Thanatophoric Dysplasia: A Rare Entity." Oman Medical Journal, 2011. https://doi.org/10.5001/omj.2011.47.
Chicago (author–date)
Naveen, N.S., B.V. Murlimanju, Vishal Kumar, Thejodhar Pulakunta, and Jeeyar H. 2011. "Thanatophoric Dysplasia: A Rare Entity." Oman Medical Journal. https://doi.org/10.5001/omj.2011.47.
Harvard
Naveen, N., Murlimanju, B., Kumar, V., Pulakunta, T. and H, J. (2011) 'Thanatophoric Dysplasia: A Rare Entity', Oman Medical Journal. doi:10.5001/omj.2011.47.
Vancouver
Naveen N, Murlimanju B, Kumar V, Pulakunta T, H J. Thanatophoric Dysplasia: A Rare Entity. Oman Medical Journal. 2011. doi:10.5001/omj.2011.47
IEEE
N. Naveen, B. Murlimanju, V. Kumar, T. Pulakunta, and J. H, "Thanatophoric Dysplasia: A Rare Entity," Oman Medical Journal, 2011, doi: 10.5001/omj.2011.47.