Results 31 to 40 of about 1,198,598 (142)

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   +1 more source

A hypoplastic patella fracture in nail patella syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome’s most common features include iliac horns, hypoplastic patella and nail dysplasia.
Neill Shane C O, Murphy Colin G, McElwain John P   +2 more
doaj   +1 more source

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

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: A CASE REPORT

, 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 ...
H. H. Musa, R. D. Wammanda
core   +2 more sources

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

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  

Renal disease in nail-patella syndrome: Clinical and morphologic studies [PDF]

, 1972
Renal disease in nail-patella syndrome: Clinical and morphological studies. Clinical and morphological features of seven patients with the nail-patella syndrome are described.
Sisson, Susan, Michael, Alfred F., Vernier, Robert L., Hoyer, John R.   +3 more
core   +1 more source

Reversible High‐Degree Atrioventricular Block Associated With Magnesium Toxicity in Severe Pre‐Eclampsia

Annals of Noninvasive Electrocardiology, Volume 31, Issue 5, September 2026.
Standard‐dose magnesium sulfate may cause life‐threatening hypermagnesemia and reversible hig ‐degree atrioventricular block in pregnant women with acute kidney injury. Prompt recognition, discontinuation of magnesium sulfate, and intravenous calcium gluconate can rapidly restore cardiac conduction and improve maternal and neonatal outcomes.
Alex F. Lwiza, Edward Thomas, Nasra Batchu, Lilian G. Mmbaga, Simon C. Peter, Abid M. Sadiq   +5 more
wiley   +1 more source