Skeletal Dysplasias That Cause Thoracic Insufficiency in Neonates: Illustrative Case Reports

Skeletal dysplasias are a heterogeneous group of conditions associated with various abnormalities of the skeleton. Some of them are perinatally lethal and can be diagnosed at birth. Lethality is usually due to thoracic underdevelopment and lung hypoplasia. A correct diagnosis and typing of the skeletal disorder is essential for the prognosis as is genetic counseling of the family. A retrospective review of 12 cases of clinico-radiologic diagnosis of skeletal dysplasia, leading to thoracic insufficiency, was conducted. We aimed to make differential diagnosis with special emphasis on radiological findings, and to emphasize the importance of parental counseling.