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.
Highlights
Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period
It was first described by Maroteaux et al in 19671. The name of this dysplasia is derived from a Greek word ‘Thanatophores’ which means constantly bearing death
The incidence is approximately 1/20,000 to 1/50,0002.Most individuals with TD die within the first few hours or days of life
Summary
Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. It was first described by Maroteaux et al in 19671. Antenatal ultrasound at 31 weeks period of gesta on suggested severe micromelia and corresponding mean age by femur length was only 14 weeks 5 days. Other sonographic features included clover leaf deformity, polyhydramnios and small thorax with pulmonary hypopasia. She delivered a baby at 34 weeks period of gesta on by vaginal delivery. Baby did not cry at birth and had poor respiratory efforts Baby succumbed to this rare and lethal form of disease within first hour of life
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