Results 51 to 60 of about 9,125 (154)

Intronic Single Nucleotide Polymorphisms in FGFR2 Gene Association With Non‐Syndromic Mandibular Retrognathism

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objective Mandibular retrognathism (MR) is a skeletal malocclusion in which patients have a deficient mandibular length, resulting in a more posterior position of the mandible. We aimed to investigate the association between Single nucleotide polymorphisms (SNPs) in Fibroblast Growth Factor Receptor 2 (FGFR2) gene and MR in germans.
Caio Luiz Bitencourt Reis, Christian Kirschneck, Daniel Hemming, Eva Paddenberg‐Schubert, Peter Proff, Daniela Silva Barroso de Oliveira, Cristiano Miranda de Araujo, Flares Baratto‐Filho, Svenja Beisel‐Memmert, Erika Calvano Küchler   +9 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Impact of Major Congenital Malformation Algorithms on Their Prevalence in Large Population‐Based Mother–Child Cohorts

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital malformations (MCM) affect 2%–6% of pregnancies globally. Identifying MCM using real‐world data is essential, but various definitions exist with differing performances and case ascertainment criteria, limiting collaborations.
Gabra Nohmie, Younes Bousbaa, Odile Sheehy, Anick Bérard   +3 more
wiley   +1 more source

Customized 3D printed helmet in the treatment of metopic craniosynostosis in a 7-month-old infant, a case report

Frontiers in Pediatrics
IntroductionMetopic craniosynostosis results in a deformed skull and hence, impacts brain growth and development. Surgery is usually applied to treat this trigonocephalic head malformation.
Huthaifa Atallah, Rabee Naeem, Amneh Alshawabka, Anas S. Said, Huda Alfatafta, Evelin Derkács, Dorottya Varga, Bálint Molics   +7 more
doaj   +1 more source

Clinical Characteristics and Surgical Decision Making for Infants with Metopic Craniosynostosis in Conjunction with Other Congenital Anomalies

Plastic and Reconstructive Surgery, Global Open, 2013
Background: Metopic craniosynostosis can occur in isolation or in conjunction with other congenital anomalies. The surgical decision making and outcomes between these 2 groups are analyzed. Methods: A retrospective review of all children evaluated in the
Craig B. Birgfeld, MD, Carrie L. Heike, MD, Babette S. Saltzman, PhD, Anne V. Hing, MD   +3 more
doaj   +1 more source

Tranexamic acid dosing in pediatric trauma: Dose simulation based on population pharmacokinetic modeling in adult trauma patients

Transfusion, EarlyView.
Abstract Background Trauma is the most common cause of death in children >1 year of age, with hemorrhage being the most common preventable cause of death after injury. Antifibrinolytics like tranexamic acid (TXA) are a key aspect of trauma management in children, but optimal dosing remains unknown.
Gideon Stitt, Kevin Downes, Athena Zuppa, Christine Leeper, Kevin Watt, Philip Spinella   +5 more
wiley   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, EarlyView.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

The Homeobox Genes: Classification, Regulation, Biological Functions, and Diseases

MedComm, Volume 7, Issue 4, April 2026.
Overview of the homeobox gene superfamily and its pathophysiological roles. The homeobox superfamily comprises several major classes, including ANTP, PRD, TALE, LIM, POU, and others. Among these, the HOX clusters (A–D) play critical roles in embryonic development specifically in conferring cellular identity, regulating morphogenesis, and guiding axial ...
Maedeh Dadzadi, Shahin Ramazi, Mona Darvazi, Sepideh Yoosefi, Melika Abbasi, Shirin Farsad   +5 more
wiley   +1 more source