Results 61 to 70 of about 11,502 (212)

Diagnosing nail-patella syndrome: can it be so simple? [PDF]

BMJ Case Rep, 2021
We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with ...
Sasidharan R, Gupta N, Toteja N, Yadav B.   +3 more
europepmc   +2 more sources

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

Eur Heart J Case Rep
Background Nail–Patella syndrome (NPS) is an autosomal-dominant pleiotropic condition characterized by pelvic and skeletal abnormalities and most commonly affecting a tetrad of nails, knees, elbows, and iliac horns, the iliac horns being pathognomonic ...
Varkoly K, Parekh A, Kaplan J, DeYoung MB.   +3 more
europepmc   +2 more sources

The First Observation and Diagnosis of Nail‐Patella Syndrome Using LV‐SEM: GBM Abnormalities Mimicking Alport Syndrome [PDF]

Nephrology
We report the case of a 32‐year‐old man with a family history of nail patella syndrome (NPS) who presented with severe kidney dysfunction, hematuria, and proteinuria.
Hiroki Ito, Katsuya Ishiyama, Takuo Hirose, Shigemitsu Sato, Risa Ishikawa, Akari Endo, Ikuko Oba‐Yabana, Tomoyoshi Kimura, Wako Yumura, Takefumi Mori   +9 more
openalex   +2 more sources

Nail-patella syndrome: "nailing" the diagnosis in three generations [PDF]

, 2020
Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns.
Harper, Haleigh, Syscos, Spyros, Kaplan, David, Hoang, Nguyen, Rickstrew, Jace   +4 more
core   +1 more source

Clinical and radiological variants of the nail–patella syndrome: Why is it important to make a correct diagnosis?

Pediatric Traumatology, Orthopaedics and Reconstructive Surgery
BACKGROUND: Nail–patella syndrome is an autosomal dominant disease caused by LMX1B mutations, characterized by a combination of dermatological and musculoskeletal abnormalities.
Ekaterina V. Petrova, Svetlana I. Trofimova, Olga Е. Agranovich, Т. В. Маркова   +3 more
openalex   +2 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  

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome. [PDF]

Intractable Rare Dis Res, 2019
Claverie-Martin F, Trindade A, Garcia-Gonzalez NC, Callejon AC.   +3 more
europepmc   +3 more sources

Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. [PDF]

BMC Nephrol, 2017
Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.   +10 more
europepmc   +3 more sources

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