Results 21 to 30 of about 3,498 (163)

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral.
Mohammed Alshahrani, Ali Maqbool, Mubashar Maqbool   +2 more
doaj   +2 more sources

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]

npj Genomic Medicine
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi   +11 more
doaj   +2 more sources

Nail-Patella Syndrome [PDF]

Sudan J Paediatr, 2023
Seyedayin Hosseini, Nima Rezaei
europepmc   +4 more sources

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]

BMC Musculoskeletal Disorders
/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto, Yoshinori Matsumoto, Shoichi Nawachi, Yosuke Asano, Yu Katayama, Yoshia Miyawaki, Takayuki Katsuyama, Eri Katsuyama, Yoshihisa Nasu, Ken-Ei Sada, Jun Wada   +10 more
doaj   +2 more sources

Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]

Scientific Reports
Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret, Séverine Hatton, Jacques Callebert, Valérie Cormier-Daire, Céline Greco   +4 more
doaj   +2 more sources

Nail patella syndrome: a rare cause of renal failure in a young adult [PDF]

The Pan African Medical Journal, 2011
Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted
Nagendra Boopathy Senguttuvan, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu   +3 more
doaj   +4 more sources

Prenatal diagnosis of nail patella syndrome: A case report

Indian Journal of Radiology and Imaging, 2017
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation.
L D Padmanabhan, D Yesodharan, S Nampoothiri   +2 more
doaj   +2 more sources

ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES [PDF]

Acta Ortopédica Brasileira
Objective: To analyze cases with clinical suspicion of patellar abnormalities, before ossification of the patella and to characterize the spectrum of abnormalities of the cartilaginous infantile patella by ultrasonography.
Leila Pereira Tenório, José Batista Volpon, Marcello Henrique Nogueira-Barbosa   +2 more
doaj   +2 more sources

Nail patella syndrome [PDF]

The Indian Journal of Pediatrics, 2009
Abstract Nail patella is one of the familial syndromes commonly asked on the FRCS (Trauma & Orth) exam. This article reviews the latest scientific information available and high-lights the key features.
Chandan Jyoti, Das, Jyotindu, Debnath
  +7 more sources

Nail-Patella Syndrome: A Classic Case [PDF]

Dermatology Practical & Conceptual, 2019
Sarita Sanke, Taru Garg, Rubina Jassi, Apoorva Maheshwari   +3 more
doaj   +2 more sources