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July 1970

Thanatophoric Dwarfism

Author Affiliations

St. Louis
From the Division of Medical Genetics, departments of pediatrics, medicine (Drs. Kaufman and Rimoin), radiology (Dr. McAlister), and pathology (Dr. Kissane), Washington University School of Medicine, St. Louis Children's Hospital, St. Louis.

Am J Dis Child. 1970;120(1):53-57. doi:10.1001/archpedi.1970.02100060087013

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

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