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Published on: March 15, 2024
Neurofibromatosis Type 1 With Severe Limb Deformity Managed by Above-Knee Amputation With Challenges and
Mohammed Tarabishi1, Abdullah I Alturki2, Majed Alasbali1
1Orthopaedic Surgery, King Fahad Medical City, Riyadh, SAU.
Abstract:
Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder involving cutaneous, skeletal, neurological, and vascular manifestations. We report a rare NF1 case in an adult male who exhibited typical clinical findings but presented with unexpected intraoperative vascular anomalies. A planned below-knee amputation was converted to an above-knee level due to fragile and dilated vessels encountered intraoperatively, emphasizing the importance of anticipating vascular variations in NF1-related limb deformities.

