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Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFRadiol Case Rep
January 2025
Pediatric Radiology Department, Pediatric Teaching Hospital, Mohammed V University, Rabat Morocco.
Persistent fetal vasculature, previously called persistent hyperplastic primary vitreous, is a rare congenital condition where a component of fetal vessels within the eye fails to regress, leading to visual acuity decrease or loss. We present a case of a 13-year-old male patient, with a history of second-degree consanguinity, psychomotor development retardation, intellectual deficit from birth, in addition to a progressive bilateral visual acuity decrease. He recently presented a leukocoria in the right eye.
View Article and Find Full Text PDFJ Orthop Case Rep
October 2024
Department of Orthopaedics, Seth G.S. Medical College and K.E.M. Hospital, Mumbai, Maharashtra, India.
Introduction: Hinge knee joint prosthesis are utilized in a variety of surgical scenarios, including complex primary, revision, salvage surgeries, and radical resection of tumor's. Link's Endo-model Hinged Knee Prosthesis is a newer design that includes ramped tibial components for controlled pivot point motion during flexion and an anti-dislocation feature to prevent prosthesis dislocation..
View Article and Find Full Text PDFAnn Chir Plast Esthet
January 2025
Service de chirurgie orthopédique et traumatologie, CHU de Guadeloupe, route de Chauvel, 97142 Les Abymes, Guadeloupe.
J Shoulder Elbow Surg
August 2024
Department of Orthopedic and Trauma Surgery, DIAKOVERE Friederikenstift and Henriettenstift, Hannover, Germany; Department of Trauma Surgery, Hannover Medical School, Hannover, Germany; Center for Musculoskeletal Surgery, Campus Virchow, Department of Shoulder and Elbow Surgery, Charité-Universitaetsmedizin, Berlin, Germany.
Background: Instabilities of the sternoclavicular (SC) joint are a rare injury, accounting for only 3% of all injuries of the shoulder girdle. Although acute posterior dislocations are an emergency and require immediate surgical intervention, anterior instabilities (first and second degree according to Allman) can mostly be treated conservatively. Chronic and highly instable acute anterior instabilities often impose a significant limitation on the lives of affected patients.
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