Results 11 to 20 of about 1,198,648 (166)
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
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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
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%.
Kundu ZS, Siwach RC.
europepmc +6 more sources
Pflügers Archiv - European Journal of Physiology, 2002 An otherwise healthy 33 days old girl, displaying features of the Nail-Patella syndrome is reported. This rare autosomal dominant disorder is characterised by nail and bone abnormalities, with nail hypoplasia or dysplasia and absent or hypoplastic ...
Musa, H. H., Wammanda, R. D.
core +3 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 +6 more
doaj +2 more sources
The Journal of Bone and Joint Surgery. British volume, 1973 1. Three families with the characteristic changes of the nail-patella syndrome are reported. In addition to the well established bone and nail defects they had soft-tissue contractures, web formation around the elbows and muscular hypoplasias.
A. Fidalgo Valdueza
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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 +3 more
doaj +2 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
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The Journal of Bone and Joint Surgery. British volume, 1970 1. From India a family is reported in which fifteen of fifty-seven were affected by the nail-patella syndrome. 2. Additional coincidental features not described previously were fiexion deformities of both hips and hyperextension of the interphalangeal ...
N. D. Aggarwal, R. L. Mittal
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