1978 Volume 27 Issue 3 Pages 419-422
Thanatophoric dwarfism is a distinctive, lethal form of bone dysplasia delineated and named by Maroteaux, Lamy and Robert in 1967.
They described four cases of their own and reviewed 17 others from the literature and personal communications.
This disorder, which has often been confused with achondroplasia, is characterized by sever micromelia and narrowing of the thorax.
Since the publication of Maroteaux and asociates a number of cases has been reported in the literature and it appeares that the condition is not extremely uncommon.
This report presents the clinical, radiographic and histological findings in two cases of thanatophoric dwarfism based on our personal experience.