Thanatophoric Dwarfism II

摘要

A ‘new’ type of lethal bone osteochondrodysplasia — Thanatophoric Dwarfism II — is described. — Symmetrical shortening of both the trunk and extremities and coarse facial features are the most important morphologic findings. The fetuses are stillborn, premature, or die soon after the birth. In radiographic examination some shortening of the long and tubular bones with flaring, cupping and irregularity of the metaphyseal areas is present. The ischial and pubic bones are unossified but in contrast the iliac bones are fairly well developed and show triradiate acetabular roofs. The vertebral column in the lateral projection shows a wide ossification gap between the vertebral bodies and vertebral arches. Anterior shortening and flaring of the ribs is present. The ossification of the cranium and clavicles is grossly normal. Thanatophoric Dwarfism II is usually confused with Achondrogenesis as described by Parenti. Further diagnostic difficulties may arise with Thanatophoric Dwarfism of Maroteaux and Achondroplasia. — The authors point out that more types of lethal osteochondrodyspl