Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
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.
Asphyxiating thoracic dysplasia (ATD, MIM 208500) belongs to the short rib polydactyly group
 and is characterized by short ribs often responsible for an early death due to respiratory
 distress, trident acetabular roof and short long bones.

 In the course of the disease, renal, liver and eye complications may occur. However, their
 frequencies are unknown.

 ATD is transmitted with an autosomal mode of inheritance and up till now only one gene has
 been identified, namely IFT80, which accounts only for a small part of ATD.

 The aim of our project is to prospectively analyze at a clinical and molecular level a series
 of 50 ATD patients and 20 fetuses to further define the natural history of the disorder and
 to contribute to the identification of its molecular basis.
Inclusion Criteria:

 -  Short ribs with narrow thorax

 -  Trident acetabular roof

 -  Short hands

 -  All ages

 -  Informed consent signed

 Exclusion Criteria:

 -  Other disease

 -  Ellis van creveld syndrome

 -  No social security