Thanatophoric Dysplasia

Authors

  • Sachendra Badal Graded Specialist (Paediatrics) IMTRAT Military Hospital
  • Shuvendu Roy Senior Advisor (Paediatrics) & Pediatric Neurologist, Army Hospital (R & R), New Delhi 110010
  • Daljit Singh Air Officer Commanding, 7 Air Force Hospital (Kanpur, UP) and Neonatologist

DOI:

https://doi.org/10.3126/jnps.v35i3.11946

Keywords:

Thanatophoric dysplasia, kleeblattschaedel, cloverleaf skull, lethal skeletal dysplasia.

Abstract

Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified clinically. The incidence is approximately 1/20,000 to 1/50,000. Type I TD being more frequent than Type II. Most individuals with TD die within the first few hours.This condition has characteristic sonographic features detected antenatally by midgestation, although distinction from other short-limbed dysplasia syndromes may be difficult. We report a case of type I TD with typical clinicoradiological features who succumbed within one hour of life.

J Nepal Paediatr Soc 2015;35(3):304-306.

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Published

2016-06-02

How to Cite

Badal, S., Roy, S., & Singh, D. (2016). Thanatophoric Dysplasia. Journal of Nepal Paediatric Society, 35(3), 304–306. https://doi.org/10.3126/jnps.v35i3.11946

Issue

Vol. 35 No. 3 (2015)

Section

Brief Reports/Case Reports/Case Series

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