DefinePK

Abstract

Thanatophoric dwarfism is lethal skeleton dysphasia; incidence is 6.9:1, 00,000 births. Can be diagnosed by ultrasound in early pregnancy. Thanatophoric dwarfism is characterized by severe micromelic limb shortening, bowing of limbs, narrow thorax, severe platyspondyly,2,6 polyhydramnios(71% of cases). Clover leaf skull-14% of cases & a small pelvis are also associated condition.