Young Pectus Excavatum Patients and Genetic Defects
NCT05443113 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 18
Last updated 2022-07-05
Summary
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare. Only one-fifth of all PE cases are identified in the first decade of life and thus of congenital origin making younger PE patients a unique patient group. Therefore, the research question is; is early-onset pectus excavatum (PE) more likely to be part of a genetic defect than PE which became apparent during puberty or adolescence?
Conditions
- Genetic Disease
- Pectus Excavatum
- Children, Adult
Interventions
- DIAGNOSTIC_TEST
-
Genetic analysis
Genetic analysis by geneticists
Sponsors & Collaborators
- lead OTHER
Principal Investigators
-
René M Wijnen · Erasmus Medical Center
Eligibility
- Min Age
- 0 Years
- Max Age
- 11 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2019-09-01
- Primary Completion
- 2020-10-01
- Completion
- 2020-10-01
Countries
- Netherlands
Study Locations
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