A Rare Presentation of a 12-Year-Old With Systemic Infantile Hyalinosis: A Case Report and Review of the Literature.

This case report presents the clinical manifestation and diagnostic testing of a 12-year-old male diagnosed with systemic infantile hyalinosis (SIH) at the Maternity and Children Hospital in Madinah in 2012. The patient presented with typical SIH symptoms, including painful joint contractures, hyperpigmented knuckles, gingival hypertrophy, subcutaneous nodules, and recurrent infections. Whole exome sequencing (WES) analysis identified a homozygous mutation in the ANTXR2 gene, which is a deletion in exon 13 (c.

The Effect of Visual Impairment on Postural Stability After Lumbar Spine Fracture: A Case Report and Review of the Literature.

The role of vision in maintaining postural stability is crucial, and its loss, whether congenital or acquired, can significantly impact sensory-motor interactions, leading to musculoskeletal abnormalities and defective gait patterns. This case report discusses the complex interplay between visual impairment, post-traumatic kyphosis, and the development of spinal deformity in a 79-year-old blind patient. The patient sustained a simple fall resulting in an L1 compression fracture in 2016.