A case of thanatophoric dysplasia with characteristic radiological, histological and molecular findings

Abstract

Thanatophoric dysplasia (TD) is one the most common lethal skeletal dysplasia with an incidence of one in 20,000. It is caused by de novo mutation of fibroblast growth factor receptor 3 (FGFR3) which in turn leads to reduced proliferation and maturation of growth plate chondrocytes. Two subtypes have been described. Type I typically features short long bones with bowed femurs, while type II manifests with straighter femurs and cloverleaf skull due to craniosynostosis.1 Our case is a 21 week gestation female baby with skeletal dysplasia diagnosed on the 20 week ultrasound.