A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]
BMC Medical Genetics, 2019 Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan +6 more
doaj +4 more sources
"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome. [PDF]
Cureus, 2023 Nail Patella Syndrome (NPS) is a rare genetic disorder with pathognomonic signs including dystrophic fingernails, iliac horns, and limb abnormalities, which commonly include hypoplastic development of the patellae, causing patients to experience patellar
Dzhugarian S +3 more
europepmc +4 more sources
The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]
BMC Musculoskeletal Disorders/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto +10 more
doaj +3 more sources
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
doaj +3 more sources
Prenatal diagnosis of nail patella syndrome: A case report
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
Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]
Scientific ReportsNail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret +4 more
doaj +3 more sources
Sudan J Paediatr, 2023 Nail-patella syndrome is a rare disorder with '' iliac horns'' its pathognomonic sign in X-ray pelvis. May I submit this case image for educational purposes of all colleagues and trainees?
Barsoum Z.
europepmc +5 more sources
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of LMX1B. [PDF]
Ann Lab MedNail-patella syndrome (NPS) is an autosomal dominant (AD) disorder caused by an abnormality in LMX1B and characterized by alterations in the dorsal limb structures, including the nails, knees, elbows, and iliac horns [1].
Jang J +7 more
europepmc +4 more sources
Consecutive successful pregnancies of a patient with nail-patella syndrome [PDF]
, 2018 Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms).
TANAÇAN, ATAKAN +4 more
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Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up. [PDF]
Eur J Hum GenetLimb malformations are paradigmatic of altered gene regulation in human disease. Nail-Patella Syndrome (NPS) is a rare condition characterized mainly by skeletal defects, glomerulonephritis and glaucoma, with variable expressivity.
Brunelle P +14 more
europepmc +4 more sources