Publications by authors named "Ralah Alharbi"
Eur J Med Genet
June 2024
Article Synopsis
- Anorectal malformations (ARMs) are congenital conditions affecting the anus and rectum, often associated with syndromic diseases, meaning they occur alongside other medical issues.
- A case study discusses a 4-year-old girl with an isolated ARM who later was diagnosed with Coffin-Siris syndrome (CSS) linked to an ARID1B gene mutation, highlighting the rarity of this dual diagnosis.
- Literature review revealed 10 other cases with both CSS and ARMs, suggesting a significant association between the two, particularly with ARID1A-related forms of CSS.
