Results 11 to 20 of about 3,517 (182)

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, Ashika Angirekula, Muhammad R. Akram, Karanjit S. Kooner   +3 more
doaj   +2 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   +2 more sources

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   +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, Michele Iester, Chiara Bonzano, Alessandro Bagnis, Carlo Enrico Traverso, Carlo Alberto Cutolo   +5 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, Zaimary A. Meneses, BS, MS, Andrew D. Ardeljan, BS, Martin W. Roche, 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, Hillevi Lindelöf, Eva Horemuzova, Ulrika Voss, Ann Nordgren, Ann Nordgren, Giedre Grigelioniene, Giedre Grigelioniene, Anna Hammarsjö, Anna Hammarsjö   +9 more
doaj   +2 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   +2 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   +2 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   +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, Chiea Chuen Khor, Luis Silva, Einar A. Krefting, Robert Ritch   +4 more
doaj   +2 more sources