Thanatophoric Dysplasia: Case Report and Review of literature

摘要

Thanatophoric Dysplasia (TD) is the most common, congenital, sporadic, usually lethal skeletal dysplasia characterized by shortening of the limbs, small conical thorax, platyspondyly and macrocephaly. TD is divided into 2 clinically defined subtypes type 1 and 2 with some clinical overlap between the 2 subtypes. Autosomal dominant mutations in the fibroblast growth factor receptor 3 gene (FGFR3), which has been mapped to chromosome band 4p16.3, results in both subtypes. The vast majority of cases are due to de novo mutations. This condition has characteristic sonographic features that suggest the diagnosis prenatally, although distinction from other short-limbed dysplasia syndromes may be difficult. To date, over 100 cases have been described. Thanatophoric fetuses usually die within the first 48 hours of life from pulmonary hypoplasia caused by a narrow thorax. We report a case of type 1 TD with typical imaging findings, along with a short review of the available literature.