Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome [PDF]
Arthroplasty Today, 2023 A 75-year-old woman presented with progressive bilateral knee pain and severe genu valgum. She could walk utilizing braces and T-canes, with a 20° flexion contracture and 150° of maximum flexion.
Teruya Ishibashi, MD, PhD +4 more
doaj +6 more sources
A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins [PDF]
Human Genome VariationNail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in ...
Nozomu Kishio +11 more
doaj +6 more sources
Proliferative retinopathy in nail-patella syndrome [PDF]
American Journal of Ophthalmology Case ReportsPurpose: Nail-Patella Syndrome (NPS) is a rare autosomal dominant disease. Associated ocular abnormalities in NPS are well established, involving the anterior segment and predisposition to open-angle glaucoma.
Liangbo Linus Shen +4 more
doaj +4 more sources
Indian J Med Res, 2018 Nail patella syndrome can be recognized by its characteristic nail dystrophy and symmetrical skeletal abnormalities. Proteinuric renal disease is a variable part of the syndrome, usually mild but causing end-stage renal failure in up to 10%.
Kundu ZS, Siwach RC.
europepmc +6 more sources
Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report. [PDF]
Int Med Case Rep J, 2021 Hereditary osteo-onychodysplasia (or nail patella syndrome) is a rare autosomal dominant disease defined by an association of severe characteristics, with a classic clinical tetrad of dysplasia of the fingernails, patellar hypoplasia or absence, presence
Serrano AF, Serrano PM.
europepmc +5 more sources
Nail-Patella Syndrome Associated with Short Stature: A Case Series [PDF]
Case Reports in Medicine, 2010 Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation.
Samir Haddad +6 more
doaj +4 more sources
Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl [PDF]
Frontiers in Pediatrics, 2021 Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns.
Ling Hou +4 more
doaj +3 more sources
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity [PDF]
Nature Communications, 2021 Nail-patella syndrome (NPS) is characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma and can be caused by haploinsufficiency of LMX1B; however, not all patients harbor pathogenic LMX1B mutations.
Endika Haro +15 more
doaj +4 more sources
Nail Patella Elbow Syndrome Presenting with Depression: A Case Report [PDF]
Journal of Clinical and Diagnostic ResearchNail-Patella Syndrome (NPS) is a rare autosomal dominant illness. Patients typically exhibit a tetrad of dysplastic finger or toenails, elbow dysplasia, hypoplastic or missing patellae, and iliac horns as their first musculoskeletal and dermatological ...
Deepa Sangolkar +4 more
doaj +3 more sources
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
doaj +3 more sources