Results 51 to 60 of about 1,198,598 (142)

NAIL-PATELLA SYNDROME

, 1970
1. From India a family is reported in which fifteen of fifty-seven were affected by the nail-patella syndrome. 2. Additional coincidental features not described previously were fiexion deformities of both hips and hyperextension of the interphalangeal ...
N. D. Aggarwal, R. L. Mittal
core   +1 more source

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

PLoS Genetics, 2014
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson   +17 more
doaj   +1 more source

Mycophenolate Mofetil–Associated Atypical Posterior Reversible Encephalopathy Syndrome With Anterior Circulation Involvement and Tetraparesis

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity characterized by acute neurologic symptoms and vasogenic edema on neuroimaging, classically involving the parieto‐occipital regions. Atypical distributions and presentations can occur, particularly in the setting of immunosuppression.
Smriti Kochhar, Benjamin Walters, Kanishk Aggarwal, Shane Kinard, Rohit Jain, Poulami Jha   +5 more
wiley   +1 more source

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   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

Type III Collagen Glomerulopathy Presenting With Divergent Histopathological Patterns: Report of Two Adult Cases and Diagnostic Pitfalls

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Type III collagen glomerulopathy (collagenofibrotic glomerulopathy) is a rare idiopathic renal disorder. It is characterized by abnormal deposition of Type III collagen fibrils within the mesangial and subendothelial compartments of glomeruli. Due to its nonspecific clinical presentation and histopathologic overlap with more common glomerular diseases,
Fatemeh Nili, Alireza Abdollahi, Parisa Arabmohammadi, Samaneh Salarvand, Poorani Gurumallesh Prabu   +4 more
wiley   +1 more source

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

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   +1 more source

High Spinal Cord Injury After a Minor Fall in a 23‐Month‐Old Girl With Atlantoaxial Instability Associated With Morquio Type A: A Case Report

Case Reports in Surgery, Volume 2026, Issue 1, 2026.
Case A 23‐month‐old girl with Morquio A syndrome (mucopolysaccharidosis IVA [MPS IVA]) scheduled for atlantoaxial stabilization surgery sustained a cervical spinal cord injury with tetraplegic symptoms following a low‐energy fall. Computed tomography (CT) images showed forward translation of C1 over C2 and magnetic resonance imaging (MRI) revealed ...
Verneri Kryssi, Johanna Syvänen, Linda Helenius, Arimatias Raitio, Ilkka Helenius, Neetu Rawal   +5 more
wiley   +1 more source

Simultaneous Bilateral Tibial Tubercle Avulsion Fractures Complicated by Compartment Syndrome in an Adolescent With Osteogenesis Imperfecta: A Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Background Osteogenesis imperfecta (OI) is a rare collagen disorder causing brittle bones. Tibial tubercle fractures are uncommon in children, comprising < 2.7% of pediatric fractures, and bilateral injuries in OI are exceptionally rare. No prior reports detail bilateral tibial tubercle fractures with concurrent bilateral compartment syndrome.
Tuckerman Jones, David Ahn, Rohan Suresh, Hyewon Kim, Sagie Haziza, Robert DalCortivo, Alexis Driscoll, Michael Metrione, Neil Kaushal, Shashank Kaushik   +9 more
wiley   +1 more source

Imaging of nail-patella syndrome

, 2005
Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered
Okten O.O., Tuncbilek N., Karakas H.M.
core   +1 more source