Publications by authors named "Roa Arman"
Ann Med Surg (Lond)
May 2024
Article Synopsis
- - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects various body systems, causing symptoms like kidney problems, vision loss, obesity, and intellectual challenges, with no specific treatment available.
- - A 4-year-old boy with BBS showed unusual symptoms including severe anemia and physical anomalies, and genetic testing confirmed a mutation in the MKKS gene; despite initial iron treatment, intravenous therapy was necessary for improvement.
- - The case highlights the complexity and rarity of BBS, particularly in Arab populations, underlining the need for comprehensive care and genetic counseling to manage complications and prevent disease transmission in families.
