Browsing by Author "Badal, Sachendra"
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Publication Thanatophoric Dysplasia(Nepal Paediatric Society (JNPS), 2015) Badal, Sachendra; Roy, Shuvendu; Singh, DaljitAbstract: 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.