A Rare Tetrad of Sickle Cell Disease, Vascular Ehlers–Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan–McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report
The coexistence of SCD, vEDS, PCD, and PMS may lead to synergistic vascular, pulmonary, and neurodevelopmental compromise, demanding multidisciplinary long-term management. This case underscores the need for a comprehensive targeted genetic assessment in patients with unusually aggressive or syndromic SCD phenotypes, particularly in regions with high levels of consanguineous marriages.
Authors
- Gassem Gohal (ORCID: https://orcid.org/0000-0003-4956-8222)
Institutions
- Jazan University (SA)
Publication Details
- Journal
- Pediatric Reports
- Published
- 2025-09-04
- DOI
- https://doi.org/10.3390/pediatric17050089
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00