Results 51 to 60 of about 1,289,318 (184)

ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report. [PDF]

Eur Heart J Case Rep
Varkoly K, Parekh A, Kaplan J, DeYoung MB.   +3 more
europepmc   +3 more sources

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  

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

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder [PDF]

, 2017
PurposeNail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome.
Sarah E. Topol, Glenn Oliveira, Torkamani, Ali, Phillips, Tierney, Topol, Sarah E, Jones, Marilyn C, Ali Torkamani, Marilyn C. Jones, Manuel Rueda, Rueda, Manuel, Tierney Phillips, Oliveira, Glenn, Emily G. Spencer, Spencer, Emily G   +13 more
core   +1 more source

Living Kidney Transplantation in a Patient With End-Stage Kidney Disease Due to Rare Juvenile Nail-Patella-Like Renal Disease Without <i>LMX1B</i> Mutation. [PDF]

Case Rep Transplant
Nail‐patella syndrome (NPS) is a rare disease characterized by fingernail dysplasia, patellar dysplasia, elbow deformities, and iliac horns, with a prevalence of 1 in 50,000 children. Most cases are caused by LMX1B mutations. Approximately 10%–40% of patients with NPS develop renal dysfunction in early childhood, whereas approximately 30% progress to ...
Okabe T, Nakajima Y, Iwatsuki K, Maenosono R, Matsuda T, Tsuchida S, Hanamori T, Fujiwara Y, Nakamori K, Matsunaga T, Yoshikawa Y, Tsujino T, Matsumura H, Nomi H, Ashida A, Azuma H.   +15 more
europepmc   +2 more sources

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

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

Clavicular horn: Another bony projection in nail-patella syndrome

, 1995
Nail-patella syndrome is an uncommon inherited disorder characterized by nail dysplasia, iliac horns, and knee and elbow abnormalities. We report a patient with nail-patella syndrome in whom clavicular horn, shoulder girdle dysplasias, and pelvic ...
Cumhur, T., Yarali, HÜSNİYE NEŞE, Karaarslan, F., Erden, G.A., Bilgiç, S.C.   +4 more
core   +1 more source