Thanatophoric dysplasia

A rare entity

N. S. Naveen, B. V. Murlimanju, Vishal Kumar, Thejodhar Pulakunta, H. Jeeyar

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)196-197
Number of pages2
JournalOman Medical Journal
Volume26
Issue number3
DOIs
Publication statusPublished - 2011

Fingerprint

Thanatophoric Dysplasia
Hypertelorism
Dwarfism
Second Pregnancy Trimester
Nose
Skeleton
Abdomen
Ultrasonography
Neck
Extremities
Head
Rib Cage

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Naveen, N. S., Murlimanju, B. V., Kumar, V., Pulakunta, T., & Jeeyar, H. (2011). Thanatophoric dysplasia: A rare entity. Oman Medical Journal, 26(3), 196-197. https://doi.org/10. 5001/omj.2011.47
Naveen, N. S. ; Murlimanju, B. V. ; Kumar, Vishal ; Pulakunta, Thejodhar ; Jeeyar, H. / Thanatophoric dysplasia : A rare entity. In: Oman Medical Journal. 2011 ; Vol. 26, No. 3. pp. 196-197.
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Naveen, NS, Murlimanju, BV, Kumar, V, Pulakunta, T & Jeeyar, H 2011, 'Thanatophoric dysplasia: A rare entity', Oman Medical Journal, vol. 26, no. 3, pp. 196-197. https://doi.org/10. 5001/omj.2011.47

Thanatophoric dysplasia : A rare entity. / Naveen, N. S.; Murlimanju, B. V.; Kumar, Vishal; Pulakunta, Thejodhar; Jeeyar, H.

In: Oman Medical Journal, Vol. 26, No. 3, 2011, p. 196-197.

Research output: Contribution to journalArticle

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