Open AccessThanatophoric Dysplasia
Author(s) -
Sachendra Badal,
Shuvendu Roy,
Daljit Singh
Publication year - 2016
Publication title -
journal of nepal paediatric society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.13
H-Index - 8
eISSN - 1990-7982
pISSN - 1990-7974
DOI - 10.3126/jnps.v35i3.11946
Subject(s) - medicine , dysplasia , incidence (geometry) , pediatrics , optics , physics
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.