Results 1 to 10 of about 1,289,318 (184)

Proliferative retinopathy in nail-patella syndrome [PDF]

American Journal of Ophthalmology Case Reports
Purpose: 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, Amelia Bhisitkul, Gregory M. Lewis, Sidhiporn Borirakchanyavat, Robert B. Bhisitkul   +4 more
doaj   +4 more sources

Orthopedic manifestations and management of nail-patella syndrome: a narrative review [PDF]

Frontiers in Pediatrics
Nail-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, Viola Sbampato, Oscar Vazquez, Giacomo De Marco, Christina Steiger, Romain Dayer, Dimitri Ceroni   +6 more
doaj   +6 more sources

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, Tetsuya Tomita, MD, PhD, Masashi Tamaki, MD, PhD, Toshitaka Fujito, MD, PhD, Seiji Okada, MD, PhD   +4 more
doaj   +4 more sources

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins [PDF]

Human Genome Variation
Nail–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, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito   +11 more
doaj   +4 more sources

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]

BMC Nephrology
Hereditary 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, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow   +5 more
doaj   +4 more sources

Lessons learned from a muscle study in nail-patella syndrome [PDF]

Orphanet Journal of Rare Diseases
Background 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, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos, Heike Kölbel   +8 more
doaj   +4 more sources

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method [PDF]

Journal of Orthopaedic Case Reports
Introduction: 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, Binoti Sheth, Sri Hari Ram V.S, Suyog Wagh, Aibin B Micheal, Shubham Atal   +5 more
doaj   +3 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, Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Ann Nordgren, Giedre Grigelioniene, Giedre Grigelioniene, Anna Hammarsjö, Anna Hammarsjö   +9 more
doaj   +4 more sources

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report [PDF]

Radiology Case Reports
Nail-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, Sabina Sitaula, Pragati Khadka, Roshna Adhikari   +3 more
doaj   +3 more sources

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]

npj Genomic Medicine
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi   +11 more
doaj   +4 more sources