Orthopedics - Oleksa A.P. 2006

Pathophysiology of Joints
Developmental Defects and Congenital Skeletal Anomalies
Thanatophoric Dysplasia

This pathology was first described by Marotex et al. in 1967 and named thanatophoric to emphasize the fact that infants die almost immediately after birth.

Newborn infants present with the following pathological features: short and bowed long bones, and a narrow Thorax with short Ribs resulting from sporadic dominant Mutations. This leads to cardiopulmonary failure, which is the cause of death. Providing medical care for such infants is futile (Jones K.L., 1988).



Last update: 10/08/2026

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