Connective tissue disorders and aneurysm
Conditions
Interventions
Not applicable, given the retrospective cohort study design.
Sponsors
Erasmus MC, Universitair Medisch Centrum Rotterdam
Eligibility
Inclusion criteria
Inclusion criteria: Patients with Traboulsi syndrome and a proven (likely) pathogenic homozygous or compound heterozygous variants in the ASPH-gene. Informed consent about re-use of the patient data is given.
Exclusion criteria
Exclusion criteria: Objection of the re-use of their data.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Better knowledge of the clinical phenotype/natural history. A pseudo-anonymized digital database will be prepared containing specific features concerning Traboulsi Syndrome which will be assessed per patient. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Demographics, including sex, age at disease presentation, age at genetic diagnosis (if applicable)- Description of cardiac and/or vascular phenotype- Description of the ocular phenotype- Description of the respiratory phenotype- Description of the skeletal phenotype- Description of the facial appearance- Information about the hematological status- Description of other connective tissue disorder features- Information about pregnancy and delivery (if applicable) | — |
Countries
Netherlands
Contacts
Public ContactI.M.B.H van de Laar
Erasmus MC, Universitair Medisch Centrum Rotterdam
Outcome results
None listed