P430: RAD51-related Fanconi anemia is commonly associated with VACTERL: Expanding the phenotypic spectrum with a fifth reported case
The proband underwent imperforate anus repair with diversion colostomy during the neonatal period, PDA ligation at age 2 ½ months, posterior sagittal anorectoplasty at age 11 months, and loop colostomy take-down and closure at age 19 months. For recurrent ear infections, underwent bilateral myringotomy and pressure equalization tube placement at age 19 months. She now attends third grade with an individualized education plan and continues receiving speech therapy for pronunciation difficulties.
Authors
- Marwan S. Shinawi (ORCID: https://orcid.org/0000-0003-1329-4100)
- Andrea Stacy
- David Brown Wilson (ORCID: https://orcid.org/0000-0002-1826-7745)
- Burak Altintas (ORCID: https://orcid.org/0000-0001-5968-4812)
- Katie Gettinger
Institutions
- Washington University in St. Louis (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103297
- Primary Topic
- Acute Lymphoblastic Leukemia research
- Type
- article
- Field-Weighted Citation Impact
- 0.00