Results 51 to 60 of about 1,644 (145)

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

Bilateral Distal Patellar Tendon Rupture in a 10‐Year‐Old Child: A Case Report and Review of the Literature

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, Oscar Vazquez, Tiago Guedes Almeida, Dimitri Ceroni, Giacomo De Marco, Srijoni Sengupta   +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, Doyle Ford, William Woodhams, William Galardi, Abdoul Mbengue, Micah Lissy, Shashank Kaushik   +6 more
wiley   +1 more source

Total Anonychia Congenita with Carpal Synostosis [PDF]

Disease and Diagnosis
Background: 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, Soner Cagatay, Mehmet Pilli, Ali Curukoglu, Deniz Seyrek Intas, Lipi Buch   +5 more
wiley   +1 more source

Imaging of nail-patella syndrome.

Hong Kong medical journal = Xianggang yi xue za zhi, 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 pathognomonic.
Tuncbilek N., Karakas H.M., Okten O.O.
openaire   +2 more sources