Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report [PDF]
Bone Reports, 2019 We report a 48-year-old Japanese man with a brown tumor of the right distal tibia. At the age of 25 years, hemodialysis was initiated due to nail-patella syndrome.
Naoya Toriu +17 more
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Arthropathy and proteinuria: nail-patella syndrome revisited [PDF]
GMS German Medical Science, 2014 [english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
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Prenatal diagnosis of nail patella syndrome: A case report
Indian Journal of Radiology and Imaging, 2017 The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation.
L D Padmanabhan +2 more
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A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]
BMC Medical Genetics, 2019 Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan +6 more
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Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report [PDF]
Journal of Orthopaedic Case ReportsIntroduction: Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral.
Mohammed Alshahrani +2 more
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ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES [PDF]
Acta Ortopédica BrasileiraObjective: To analyze cases with clinical suspicion of patellar abnormalities, before ossification of the patella and to characterize the spectrum of abnormalities of the cartilaginous infantile patella by ultrasonography.
Leila Pereira Tenório +2 more
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LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]
npj Genomic MedicineNail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato +11 more
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The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]
BMC Musculoskeletal Disorders/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto +10 more
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Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]
Scientific ReportsNail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret +4 more
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