Results 21 to 30 of about 1,289,318 (184)
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 +3 more
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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
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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
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Genetic analysis of a pedigree with nail-patella syndrome and literature review [PDF]
Xin yixue, 2023 Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family.
Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo
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 +5 more
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SICOT-J, 2016 Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B.
Konrads Christian +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
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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 +1 more
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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
Imaging of nail-patella syndrome.
Hong Kong medical journal = Xianggang yi xue za zhi, 2005 Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic.
Tuncbilek N., Karakas H.M., Okten O.O.
core +4 more sources