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
Barkhordari, S., & Gerami, R. (2023). Thanatophoric Dysplasia Type1; A Lethal Dysplasia. Iranian Congress of Radiology, 38(4), 164-164. doi: 10.22034/icrj.2023.179553
MLA
Shoresh Barkhordari; Reza Gerami. "Thanatophoric Dysplasia Type1; A Lethal Dysplasia". Iranian Congress of Radiology, 38, 4, 2023, 164-164. doi: 10.22034/icrj.2023.179553
HARVARD
Barkhordari, S., Gerami, R. (2023). 'Thanatophoric Dysplasia Type1; A Lethal Dysplasia', Iranian Congress of Radiology, 38(4), pp. 164-164. doi: 10.22034/icrj.2023.179553
VANCOUVER
Barkhordari, S., Gerami, R. Thanatophoric Dysplasia Type1; A Lethal Dysplasia. Iranian Congress of Radiology, 2023; 38(4): 164-164. doi: 10.22034/icrj.2023.179553
)