Genetically-determined familial recurrent thanatophoric dysplasia

Abstract

Summary Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.