Thanatophoric Dysplasia Type1; A Lethal Dysplasia


1 Army University of Medical Sciences*

2 Army University of Medical Science



Thanatophoric dysplasia type 1 (TD1) is a lethal form of osteochondral dysplasia due to mutation of FGFR3 gene. In addition to severe shortening of the limbs there is temporo- occipital lobe dysplasia along with a range of other CNS anomalies. In this report we describe the radiological and anatomical features in a fetus.We have also summarized the key distinguishing features of TD1 from other common types of osteochondral dysplasia. An accurate diagnosis is important for genetic counseling and impact on future pregnancies