Results 51 to 60 of about 1,086 (157)

Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis

SICOT-J, 2015
Background: Presentation of proximal radioulnar synostosis varies from cosmetic concerns with no functional limitations to significant pronation deformity which hampers activities of daily living.
Garg Gaurav, Gupta Som P.
doaj   +1 more source

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report [PDF]

Journal of Yeungnam Medical Science
Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B.
Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee   +3 more
doaj   +1 more source

Endoscopic Resection of Inflamed Elbow Bicipitoradial Bursa and Distal Biceps Tendon Synovectomy

Arthroscopy Techniques, Volume 14, Issue 6, June 2025.
Abstract Elbow bicipitoradial bursitis can be a result of chronic overuse, chronic infection, chronic inflammation, and tumor‐like conditions. Bicipitoradial bursitis is treated conservatively with rest, anti‐inflammatories, and physical therapy. Sonography‐guided fluid aspiration is indicated if symptoms persist, and local steroid injections are ...
Florence Ou Suet Pang, Ka Kin Cheung, Tun Hing Lui   +2 more
wiley   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Anatomic 2‐Incision Distal Biceps Technique Using Unicortical Buttons

Arthroscopy Techniques, Volume 14, Issue 4, April 2025.
Abstract Most patients with distal biceps tendon ruptures would benefit from surgical intervention, however, there has yet to be a clear consensus regarding the optimal technique and method of distal biceps fixation. Techniques can be broadly classified by approach—1‐incision or 2‐incision approach—and method of fixation—including options such as bone ...
Andrew Renshaw, Evans Few, Noah Schneider, Karim Meijer   +3 more
wiley   +1 more source

Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study

Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.
ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç, Sandra J. B. van Dijk, Feikje J. ten Cate, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. van Maarle, Eva Pajkrt   +7 more
wiley   +1 more source

Distal Biceps Repair Using an All‐Suture Anchor Technique

Arthroscopy Techniques, Volume 13, Issue 2, February 2024.
Abstract Distal biceps ruptures are common injuries that lead to significant decrease in elbow supination strength and pain. This Technical Note describes a single‐incision distal biceps tendon repair using 2 knotless suture anchors. This technique is easily reproducible, is efficient, and has the unique benefits of decreasing the risk of heterotopic ...
Nathan Moroski, Joshua R. Eskew, Geoffrey Marston, Steven Martin   +3 more
wiley   +1 more source

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies

Prenatal Diagnosis, Volume 46, Issue 4, Page 603-606, April 2026.
Nicole R. Legro, Lylach Haizler‐Cohen, William Genthe, Victoria Greenberg   +3 more
wiley   +1 more source

An atypical Aymé‐Gripp phenotype detected by exome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 1, Page 70-76, January 2024.
Abstract Aymé‐Gripp Syndrome (AGS) is an ultra‐rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date.
Martina Caiazza, Alberto Budillon, Emanuele Monda, Giustina Aruta, Augusto Esposito, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro, Gioacchino Scarano, Giuseppe Limongelli   +9 more
wiley   +1 more source

Malunited Distal End Radius with Garden Spade Deformity and Distal Radioulnar Synostosis: A Case Report of a Quirky Wrist [PDF]

Journal of Clinical and Diagnostic Research
Distal end radius fractures are the most common type of wrist fracture and a significant complication associated with these injuries is malunion, which can lead to deformities that adversely affect the normal biomechanics of the wrist joint.
Aswin Sugumaran, Dilip Kumar Naidu, Sabari Vaasan Lakshmikanthan, Madhan Raju, Kevin Dhas   +4 more
doaj   +1 more source