Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Asphyxiating Thoracic Dystrophy
- Sponsor
- Assistance Publique - Hôpitaux de Paris
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Natural history of asphyxiating thoracic dystrophy (ATD)
- Status
- Completed
- Last Updated
- 14 years ago
Overview
Brief Summary
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.
Detailed Description
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Short ribs with narrow thorax
- •Trident acetabular roof
- •Short hands
- •Informed consent signed
Exclusion Criteria
- •Other disease
- •Ellis van creveld syndrome
- •No social security
Outcomes
Primary Outcomes
Natural history of asphyxiating thoracic dystrophy (ATD)
Time Frame: 3 years
Secondary Outcomes
- Correlation Phenotype-Genotype(3 years)