Results 11 to 20 of about 1,289,318 (184)
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 +6 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
Prenatal diagnosis of nail patella syndrome: A case report [PDF]
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
doaj +4 more sources
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
doaj +4 more sources
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
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.
Chandan Jyoti, Das, Jyotindu, Debnath
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
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