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
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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
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up [PDF]
Frontiers in Endocrinology, 2022 Nail-patella syndrome (NPS, OMIM #161200) is a rare autosomal dominant disorder with symptoms from many different parts of the body, including nails, knees, elbows, pelvis, kidneys and eyes.
Hillevi Lindelöf +9 more
doaj +2 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 +2 more sources
Lessons learned from a muscle study in nail-patella syndrome [PDF]
Orphanet Journal of Rare DiseasesBackground Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature.
Luisa Paul +8 more
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Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method [PDF]
Journal of Orthopaedic Case ReportsIntroduction: Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by nail dysplasia, hypoplastic or absent patellae, elbow anomalies, and iliac horns.
Burhanuddin F Chhatriwala +5 more
doaj +2 more sources
Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report [PDF]
Radiology Case ReportsNail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows.
Saroj Sitaula +3 more
doaj +2 more sources
Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome [PDF]
American Journal of Ophthalmology Case Reports, 2020 Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin +4 more
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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 +2 more sources