Comprehensive review of prenatally diagnosed thanatophoric dysplasia in Japan

Abstract

 Thanatophoric dysplasia is a severe skeletal dysplasia. Recent advancements in neonatal respiratory management have resulted in long-term survival of individuals with thanatophoric dysplasia. It is now recognized that this disease is not always fatal. However, there are currently no standardized guidelines or statements for the management of neonates with this disorder, and each medical institution manages the patients on a case-by-case basis. In this paper, we present a case of thanatophoric dysplasia in our hospital who was managed by multidisciplinary medical staffs during the perinatal and postnatal periods. Extensive treatment was carried out immediately after birth, and the patient survived for 5 months. The extensive review of the previous literatures on the perinatal management of thanatophoric dysplasia in Japan revealed that patients contributed by genetic specialists received relatively extensive treatments after birth. In addition, patients who were intensively treated survived for at least three months. This report may help us understand the management of this rare genetic disorder with nearly lethal manifestations in Japan.