Results 61 to 70 of about 1,198,648 (166)
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 +11 more
wiley +1 more source
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 +4 more
wiley +1 more source
Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report
Journal of Orthopaedic Case ReportsIntroduction: 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 +2 more
doaj +1 more source
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 +5 more
wiley +1 more source
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 +9 more
wiley +1 more source
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Background Patellar tendon rupture is a rare lesion that usually occurs in adult patients with predisposing factors. The condition is even rarer in pediatric populations and presents either as a sleeve fracture of the patella’s inferior pole or as an avulsion of the tibial tubercle.
Elvin Gurbanov +5 more
wiley +1 more source
Congenital Anomalies of the Knee—Hypoplasia of the Meniscus: A Case Report
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Background Congenital anomalies involving the meniscus and anterior cruciate ligament (ACL) are rare and often discovered incidentally. Discoid meniscus is the most frequently reported congenital variant, whereas medial meniscal hypoplasia and ACL agenesis remain exceptionally uncommon.
Arianna Paa +6 more
wiley +1 more source
Total Anonychia Congenita with Carpal Synostosis [PDF]
Disease and DiagnosisBackground: Anonychia congenita is a rare genetic disorder of fingernails and/or toenails with unknown prevalence leading to aplasia of nail structures which may be seen either as an isolated abnormality or as part of a syndrome affecting multiple parts ...
Milad Bahari, Negar Douzandeh
doaj +1 more source
Hypertrophic Osteopathy Associated With Intrathoracic Masses in 5 Dogs and Review of the Literature
Veterinary Medicine International, Volume 2026, Issue 1, 2026.This study describes the clinical and radiographical findings of hypertrophic osteopathy in 5 female mature adult dogs with pulmonary and mediastinal masses. Besides, the literature review from the past to today provides information about the disease.
Mehmet Alper Cetinkaya +5 more
wiley +1 more source
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, Volume 98, Issue 6, Page 1335-1351, December 2025.[Color figure can be viewed at www.annalsofneurology.org] Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy ...
Berta Estévez‐Arias +23 more
wiley +1 more source