In epiphyseal cartilage tissue, a reduced lobulation of the cell surfaces was observed. The transformation of osteoblasts to osteocytes was marked by a significant reduction of cell diameter and incomplete calcification of osteocytes. Inpatient care is necessary. If aggressive treatment is deferred, then palliative treatment is indicated. Transfer may be required in cases of prolonged survival, and home care is not possible.
Prognosis generally is lethal in the first few days of life.
Respiratory insufficiency is the cause of death. If a woman carrying an affected fetus is past the period when a therapeutic abortion can take place, then discuss aggressive and nonaggressive management frankly. Antenatal diagnosis of lethal skeletal dysplasias. Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report.