Results 61 to 70 of about 7,211 (209)

A case with bilateral radio-ulnar synostosis [PDF]

, 2008
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes.
Karaer, K., PERÇİN, FERDA EMRİYE, Koc, A., ERGÜN, MEHMET ALİ, Kaymak, A. Oe., AKSU, TEKİN   +5 more
core   +2 more sources

Post-traumatic radioulnar synostosis in distal forearm following external fixation : a case report and review of the literature

La Revue Marocaine de Chirurgie Orthopédique et Traumatologique (RMACOT)
Post-traumatic radioulnar synostosis is a rare complication of forearm or elbow injury that can have debilitating consequences. Risk factors include aspects of the initial trauma and the surgical management of that trauma.
Oussama El Alaoui, Oussama Jelti , Adnane Lachkar, Abdeljouad Najib, Hicham Yacoubi   +4 more
doaj   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature

Clinical Genetics, EarlyView.
Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi, Abdul A. Peer‐Zada, Abeer S. Alaqidi, Corinne Collet, Capucine Coulon, Aziza Mushiba, Florence Petit   +6 more
wiley   +1 more source

Sagittal Synostosis (Scaphocephaly) [PDF]

, 2017
Kraniosinostozlar arasında en sık görülen tek sütür sinostozu olan sagital sinostoz, sagital sütürün erken kapanmasıdır. Sagital sütürün erken kapanması sonucu gelişen kafa şekline dolikosefali, bununla beraber sagital sütür kabarıklığı var ise ...
Karabağlı, Hakan, Şahinoğlu, Mert, Gezer, Burak   +2 more
core  

Unilateral lambdoid synostosis: morphological characteristics [PDF]

, 1998
The accurate diagnosis of unilateral lambdoid synostosis versus deformational occipital plagiocephaly has remained a complex and controversial issue in the field of craniofacial surgery.
David, D., Menard, R.
core   +1 more source

Case Report - Congenital proximal radioulnar synostosis [PDF]

, 2003
Congenital proximal radio-ulnar synostosis is a rare anomaly and is often part of syndromes such as Crouzon, Apert's and Poland's. We have successfully managed one such case with bilateral involvement not associated with any other congenital deformity ...
Manmohan Singh, B. B. Dogra, Anil Malik
core   +4 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

A Review of the Applications and Challenges of Pulsed Electric Fields in Fish Ecological Protection

Aquaculture, Fish and Fisheries, Volume 6, Issue 3, June 2026.
ABSTRACT The use of pulsed electric fields (PEF) to regulate fish swimming patterns, especially during migratory channel restoration in dammed rivers, faces significant operational challenges. These challenges can generally be attributed to the multifaceted nature of fish behaviour and limitations in research on physical interception methods.
Ting Li, Duan Chen, Huiqun Cao, Meng Wang, Yujie Ma, Haoyang Shi, Sheng Bi, Minghai Huang, Hui Guo   +8 more
wiley   +1 more source

Beyond mammals: the evolution of chewing and other forms of oropharyngeal food processing in vertebrates

Biological Reviews, Volume 101, Issue 3, Page 1406-1462, June 2026.
ABSTRACT Oropharyngeal food processing exhibits a remarkable diversity among vertebrates, reflecting the evolution of specialised ‘processing centres’ associated with the mandibular, hyoid, and branchial arches. Although studies have detailed various food‐processing strategies and mechanisms across vertebrates, a coherent and comprehensive terminology ...
Daniel Schwarz, Maja Mielke, Stephan Handschuh, Anthony Herrel, Patrick Lemell, Léa Da Cunha, Nicolai Konow   +6 more
wiley   +1 more source