Results 11 to 20 of about 1,198,598 (142)

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

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, D Yesodharan, S Nampoothiri   +2 more
doaj   +4 more sources

Arthropathy and proteinuria: nail-patella syndrome revisited

GMS German Medical Science, 2014
[english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
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, Leila Ghedira-Besbes, Chahra Bouafsoun, Sabeur Hammami, Slaheddine Chouchene, Chebil Ben Meriem, Mohamed-néji Guediche   +6 more
doaj   +2 more sources

A Case Report of Nail-Patella Syndrome

罕见病研究, 2023
Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail ...
CHEN Dan, SUN Liying, ZHONG Wenyao, TIAN Wen   +3 more
doaj   +2 more sources

Nail Patella Elbow Syndrome Presenting with Depression: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Nail-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, Shweta Borkar, Nakul Ambhore, Ashish Ambhore, Nayan Sinha   +4 more
doaj   +2 more sources

Nail-Patella Syndrome: A Case Report

Proceedings of Singapore Healthcare, 2013
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene.
Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED, Li Ching Chew BMed Sci, BMBS, MRCP   +1 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