Thanatophoric Dwarfism 1예*

Abstract

Thanatophoric dwarfism is the term applied to a distinctive, lethal form of bone dysplasia described by Maroteaux, Lamy and Rebert in 1967.

Until recently Thanatophoric dwarfism, a short-limb dwarf condition, has been interpreted as a severe, immature form of achondroplastic dwarfism.

This paper presents the clinical, radiologic, and autopsy findings of a case of thanatophoric dwarfism detected postnatally by radiologic examination.