Article
From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report.
Journal of medical case reports - 2 Jun 2026
Alqawlaq Abdulelah K, Almoshawar Hadi H, Saddiq Bushra Bin, ElZayyat Ehab, Felemban Faiz
Abstract excerpt
BACKGROUND: Spondyloepimetaphyseal dysplasia with joint laxity type 3 (SEMD-JL3) is a rare autosomal-recessive skeletal disorder caused by pathogenic variants in the EXOC6B gene. It is characterized by abnormal bone and joint development, resulting in generalized joint laxity, recurrent dislocations, and short stature from early childhood. CASE PRESENTATION: We report the case of a 16-year-old Saudi girl with...
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