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 +2 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 +2 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
Robotic-Assisted Lateral Unicompartmental Knee Arthroplasty in a Patient With Nail-Patella Syndrome [PDF]
Arthroplasty Today, 2021 A 59-year-old woman with nail patella syndrome (NPS) presented with progressive and severe right knee pain for the past 3 years. Imaging demonstrated laterally dislocated patella, with asymmetric femoral trochlea, and advanced lateral compartment ...
Rushabh M. Vakharia, MD +3 more
doaj +2 more sources
Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature [PDF]
Case Reports in Ophthalmology, 2022 Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by nail dysplasia, aplastic or hypoplastic patellae, elbow dysplasia, and presence of iliac horns. Renal or ocular abnormalities are also associated with the disease.
Nicola Pallozzi Lavorante +5 more
doaj +2 more sources
Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]
Anais Brasileiros de Dermatologia, 2017 : The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes +1 more
doaj +6 more sources