Thanatophoric dysplasia (TD) is a rare autosomal dominant lethal skeletal dysplasia with two subtypes. Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) results in both subtypes. In prenatal diagnosis of TD by three-dimensional ultrasound examination in second trimester aids in visualizing facial features and other soft tissue findings such as cloverleaf skull, very short extremities and small thorax. Most of the affected fetuses die in utero or shortly after birth due to either respiratory insufficiency or brain stem compression or combination of both. We report one such rare case of type I TD encountered at 32 weeks of gestational age.
Samsudeen MF, Maggonage CG, Wedisha IG, Thuvaratheepan R, Kaluarachchi A. Fetal thanatophoric dysplasia. Sri Lanka Journal of Obstetrics and Gynaecology. 2017;39(4):78–9. DOI: http://doi.org/10.4038/sljog.v39i4.7827
Samsudeen, M. F., Maggonage, C. G., Wedisha, I. G., Thuvaratheepan, R., & Kaluarachchi, A. (2017). Fetal thanatophoric dysplasia. Sri Lanka Journal of Obstetrics and Gynaecology, 39(4), 78–79. DOI: http://doi.org/10.4038/sljog.v39i4.7827