Results 1 to 10 of about 1,625 (126)
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 +4 more sources
Orthopedic manifestations and management of nail-patella syndrome: a narrative review [PDF]
Frontiers in PediatricsNail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac
Amandine Beaugé +6 more
doaj +4 more sources
Orthopaedics and Trauma, 2009 Abstract Nail patella is one of the familial syndromes commonly asked on the FRCS (Trauma & Orth) exam. This article reviews the latest scientific information available and high-lights the key features.
Charlotte Jones +2 more
exaly +6 more sources
Retrospective Diagnosis of Nail-patella Syndrome. [PDF]
Indian J Nephrol, 2021 A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was
Virani ZA, Rajput P, Vora H, Shah BV.
europepmc +3 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 +2 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%. An association with glaucoma has been recognized and this should be screened for.
Kundu ZS, Siwach RC.
europepmc +5 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 +2 more sources
Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings [PDF]
Case Reports in Ophthalmology, 2022 We describe a 51-year-old Hispanic female with nail-patella syndrome (NPS), a rare genetic disease with a wide range of systemic features such as nail dysplasia and finger abnormalities, elbow webbing, iliac horn, patellar subluxation, and proteinuria ...
Hafsa Z. Zuberi +3 more
doaj +2 more sources
A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]
BMC NephrologyHereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung +5 more
doaj +2 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 +2 more sources