Kshama Vivek Kedar1, Monika Daulatrao Akare2, Surekha Narayan Khandale3
BACKGROUND Thanatophoric Dysplasia (TD) is a lethal skeletal dysplasia. Prenatal diagnosis of TD is usually accomplished by Ultrasonography (USG). However, it is not always possible to distinguish TD from other skeletal dysplasias by USG. Chromosomal analysis and DNA molecular testing can be done in suspected cases of TD. Differentiating known lethal disorders from nonlethal disorders before delivery and determining post-delivery management plans improves patient care. We report a case of TD undiagnosed till term and the dilemma faced due to difficulty in differentiating the lethal and non-lethal forms on ultrasonography.
