Thanatophoric Dysplasia in One of a Set of Dichorionic Twin: A Case Report

Abstract

Thanatophoric dysplasia is a fatal type of skeletal dysplasia resulting from mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Several reports of singleton pregnancies affected by this condition in Nigeria and other countries are available in the literature. A case of early second-trimester diagnosis in a set of dichorionic twins had been reported in Korea. To the best of our knowledge, this represents the first documented case in Nigeria of a twin diagnosed with thanatophoric dysplasia following a delayed prenatal ultrasound. This case involved a set of dichorionic twins delivered via caesarean section, in which one twin presented with skeletal abnormalities (shortened limbs) and cardiorespiratory instability. Radiological investigations confirmed the diagnosis of thanatophoric dysplasia. Supportive care, including the use of continuous positive airway pressure, was instituted. This case report highlights the rare occurrence of thanatophoric dysplasia in twins, creating awareness about this rare condition.