Results 81 to 90 of about 7,211 (209)

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

Spring-Assisted Cranioplasty for Bicoronal Synostosis [PDF]

, 2012
BACKGROUND: Numerous surgical techniques for cranial reconstruction of patients with bicoronal synostosis have been suggested. The outcome is, however, still often suboptimal. METHODS: Since 2005, we have, at the Craniofacial Unit, Sahlgrenska University
Tovetjärn, Robert,, Kölby, Lars, Tarnow, Peter, Kreiborg, Sven, Maltese, Giovanni, Tovetjärn, Robert, Tarnow, Peter,, Maltese, Giovanni,, Kölby, Lars,   +8 more
core   +1 more source

Surgical correction of closed simple metatarsal fractures in a pet rabbit (Oryctolagus cuniculus) with intramedullary pins

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract A 4‐month‐old pet rabbit was presented with intermittent left pelvic limb lameness, painful and swollen left metatarsal region. Radiographs revealed complete simple fractures of the left metatarsal bones II, III and IV. Open reduction and internal fixation were performed using intramedullary pins.
Dimitri Alarcon, Marie Fournier, Patricia Muffat‐es‐Jacques, Charly Pignon   +3 more
wiley   +1 more source

The frontosphenoidal suture: fetal development and phenotype of its synostosis [PDF]

, 2008
BACKGROUND: Isolated synostosis of the frontosphenoidal suture is very rare and difficult to diagnose. Little has been reported on the clinical presentation and fetal development of this suture.
Adrichem, Léon, Lequin, M H., Vaandrager, JM (Michiel), Mathijssen, I.M., Lequin, MH, van Adrichem, L.N., van der Hulst, R.R.W.J., Meulen, Jacques, Vaandrager, J.M., van der Meulen, J.J., Mathijssen, Irene, van der Hulst, RRWJ, Vermeij Keers, C., Keers, Christl   +13 more
core   +1 more source

Dysmorphological and Neuropsychological Phenotypes of Prenatally Alcohol‐Exposed 6‐Year‐Old Children: A Prospective Longitudinal Birth Cohort Study

Alcohol, Clinical and Experimental Research, Volume 50, Issue 5, May 2026.
A prospective cohort study assessed 28 children with substantial prenatal alcohol exposure (PAE) and 52 controls at the age of 6. Most PAE children met Fetal Alcohol Spectrum Disorder (FASD) criteria, showing dysmorphic features, neurocognitive deficits, ADHD symptoms, and other health impairments. None had a prior diagnosis, demonstrating the need for
M. Jolma, E. Wallén, E. Saure, K. Rämö, H. Kahila, N. Kaminen‐Ahola   +5 more
wiley   +1 more source

Ertl surgery on the short fibula stump after war injury

Medicinski Glasnik
Aim To propose a new technique of Ertl-type surgery for significantly shortened and valgus deviated fibula stump. Methods We present the case of a 26-year-old patient who underwent reamputation surgery to replace a significantly shortened fibula ...
Viktor Shevchuk, Yurii Bezsmertnyi, Olexander Bezsmertnyi, Olexander Branitsky   +3 more
doaj   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

A Suture-specific Photo Score for Metopic Synostosis [PDF]

Head shape assessments in children with metopic synostosis are a relevant outcome measure in addition to functional measures, such as neurocognitive outcomes, behavioral outcomes, and visual functioning outcomes.
Parks, C., Pleumeekers, M., Van Veelen, M. L.C.; id_orcid, Mathijssen, I. M.J., Gaillard, Linda, Versnel, S.   +5 more
core   +3 more sources

Cortical Bone Loss in Barcelona Across Time (1st Century CE–18th Century CE) and Its Potential Relationship With Linear Enamel Hypoplasia

American Journal of Biological Anthropology, Volume 189, Issue 4, April 2026.
ABSTRACT Objectives The purpose of this study is to conduct a diachronic analysis of cortical bone loss in Barcelona, spanning from the 1st to 18th century CE, assessing the relationship between cortical bone loss and early‐life stressors, as indicated by linear enamel hypoplasia (LEH) across Roman, Late Antiquity, Medieval, and Modern periods and ...
Antony Cevallos, Alexandre Tarragó, Carme Rissech   +2 more
wiley   +1 more source

Congenital proximal radio ulnar synostosis [PDF]

, 1977
In this paper 5 cases of congenital proximal radioulnar synostosis which were seen in Cukurova University Faculty of Medicine Department of Orthopedics and Traumatology between 1974 and 1977 are presented and were reviewed in view of the literature.
Cayhan G., Baytok G.
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