Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
The aim of the project is to prospectively analyze at a clinical and molecular level a series of 50 asphyxiating thoracic dysplasia (ATD) patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
• Short ribs with narrow thorax
• Trident acetabular roof
• Short hands
• All ages
• Informed consent signed