Results 31 to 40 of about 11,502 (212)
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
Retrospective Diagnosis of Nail-patella Syndrome. [PDF]
Indian J Nephrol, 2021 A 37 years old female presented with asymptomatic nephrotic range proteinuria due to focal segmental glomerulosclerosis (FSGS). She was treated with steroids and mycophenolate mofetil to which there was no response and progressed to advanced chronic kidney disease. When her brother who was being evaluated as a potential donor, for renal transplant, was
Virani ZA, Rajput P, Vora H, Shah BV.
europepmc +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
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
Nail-patella syndrome with infertility in a 38 year old Saudi male: A case report
Journal of Dermatology and Dermatologic Surgery, 2016 Nail-patella syndrome (NPS) which also known as hereditary osteo-onychodysplasia is a rare autosomal-dominant disorder characterized by a classic clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.
Nada Al-Ghamdi
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
core +3 more sources
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
core +3 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 +1 more
doaj +2 more sources
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
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
doaj +2 more sources