Results 31 to 40 of about 1,512 (149)

NailPatella Syndrome A Case Report

Acta Orthopaedica et Traumatologica Turcica, 2021
ln Our Clinic, a Case of Habitual dislocation of patella was diagnosed as Nail-Patella Syndrome, ln ourpatient, dystrophic changes In nails, hypoplasia of femoral condyle and habitual dislocation of patella in knee, hypoplasia of capitellum and radial ...
Mahmut U. Karli, Mustafa Caniklioglu, Cuneyt Mirzanli, Nikola Azar, Kuddusi Polat   +4 more
doaj  

Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology

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, Reppenhagen Stephan, Plumhoff Piet, Rudert Maximilian, Steinert Andre, Barthel Thomas   +5 more
doaj   +1 more source

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   +1 more source

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome

Acta Dermato-Venereologica, 2019
Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis.
Satoru Shinkuma, Hideki Nakamura, Manami Maehara, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Satoshi Hasegawa, Kazuko C. Sato-Matsumura, Riichiro Abe, Hiroshi Shimizu   +9 more
doaj   +1 more source

Nail-Patella Syndrome Associated with Short Stature: A Case Series

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   +1 more source

Nail-Patella Syndrome

Lovelace PD, May LA.
europepmc   +3 more sources

Familial congenital posterior luxation of the head of radius variance of the NaiIPatella syndrome

Acta Orthopaedica et Traumatologica Turcica, 2021
Familial congenital posterior luxation of the head of radius is a rarely encountered congenital anomaly. lt may be isolated or combined with other congenital anomalies.
Sait Ada, Arslan Bora, Ferda Ozkınay, Fuat Ozerkan, Ibrahim Kaplan   +4 more
doaj  

Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia

Advanced Biomedical Research, 2014
Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour, Alireza Faghihi, Mohammadreza Ghasemi, Gelareh Ghaffarpour   +3 more
doaj   +1 more source

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   +1 more source

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   +1 more source