In 1967, Maroteaux et al1 described a specific chondrodystrophy which they named thanatophoric (death producing) dwarfism, since it results in death shortly after birth. This disorder, which had previously been confused with achondroplasia, is characterized by severe micromelia and narrowing of the thorax. They described four cases and culled 17 others from the literature and personal communications. Further cases have since been described by Giedion,2 Langer et al,3 and Beaudoing et al,4 and Langer et al3 called attention to a case previously described by Cronberg.5
This report presents the clinical, radiographic, and autopsy findings of a case of thanatophoric dwarfism detected prenatally by radiologic examination and discusses the differentiation of this disorder from other forms of congenital short-limbed dwarfism.
Report of a Case
A 23-year-old white woman, whose pregnancy was reported to be 45 weeks in length, was admitted to St. Louis Maternity Hospital
Kaufman RL, Rimoin DL, McAlister WH, Kissane JM. Thanatophoric Dwarfism. Am J Dis Child. 1970;120(1):53-57. doi:10.1001/archpedi.1970.02100060087013