Thanatophoric Dysplasia Variant, San Diego Type in a Chinese Fetus, Caused by C746G Missense Mutation in FGFR3 Gene CP LEE

Abstract

Abstract Thanatophoric dysplasia variant − San Diego type (TD-SD) is a variant of thanatophoric dysplasia (TD), sharing with TD subtype TD1, common mutations in the FGFR3 gene. We describe the first local case of TD-SD with missense mutation C746G in FGFR3 gene. Radiologically, major features consist of macrocephaly, wafer thin vertebral bodies, and metaphyseal flaring of tubular bones that differentiate from other types of thanatophoric dysplasia