Unveiling the Mystery of Thanatophoric Dysplasia: A Case Report on Clinical and Radiological Correlation in a Low-Antenatal Care Setting

Abstract

Thanatophoric Dysplasia (TD) is a rare, lethal skeletal dysplasia caused by FGFR3 gene mutations, leading to severe bone and cartilage abnormalities. TD is classified into two subtypes: Type 1, characterized by bowed femurs and a normal skull, and Type 2, with straight femurs and a cloverleaf skull deformity. Common features include micromelia, macrocephaly, a narrow thorax, and respiratory insufficiency. We report a case of 32-year-old primigravida presented at 28 weeks gestation with reduced fetal movements and no prior antenatal visits. Ultrasound revealed breech presentation, limb shortening, and macrocephaly. Labor was induced, resulting in a preterm vaginal delivery. Postnatal examination showed bowed femurs, short ribs, and a narrow thorax. Despite intensive care, the infant developed respiratory distress and died on the fourth day. Radiological findings, including macrocephaly and telephone receiver deformity of the femurs, confirmed Type 1 TD.

Key Words: Thanatophoric Dysplasia, Macrocephaly, Craniosynostosis, Chorioamnionitis,Achondroplasia