Thanatophoric Skeletal Dysplasia: A Case Report

Abstract

Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings suggestive of Thanatophoric skeletal dysplasia which resulted into death of the baby within an hour of birth. Almost all cases of this condition have been reported to have died interuterinally or few days after birth.

Keywords

• birth defect; micromelia; skeletal dysplasia; thanatophoric skeletal dysplasia.