Results 51 to 60 of about 2,513 (173)

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

Paediatric and Perinatal Epidemiology, Volume 40, Issue 4, Page 511-525, May 2026.
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

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Apert Syndrome Presenting with Omphalocele [PDF]

Journal of Krishna Institute of Medical Sciences University, 2019
Apert syndrome is a congenital acrocephalosyndactyly syndrome. It is mainly presented by craniosynostosis, syndactyly of the hands and feet and dysmorphic facial features.
Keerti Swarnkar, Sarika Gaikwad, Punam Uke, Keta Vagha, Yash Dalal   +4 more
doaj  

Larsen syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2016
Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost.
Mohammed Mahbubul Islam, Mujammel Haque, Zahoor Hussain Daraz, Sufia Khatun Sumi, Mohammad Imnul Islam, Shahana A. Rahman   +5 more
doaj   +1 more source

A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation

Haseki Tıp Bülteni, 2022
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor- β pathway. Here, we report a homozygous case with LDS.
Betul Okur Altindas, Ayse Gul Zamani, Mehmet Burhan Oflaz, Muhammed Gunes, Mahmut Selman Yildirim   +4 more
doaj   +1 more source

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

Paediatric and Perinatal Epidemiology, Volume 40, Issue 3, Page 414-425, March 2026.
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

Human‐Centered Design of a Contextualized Service Delivery Model for Families of Infants With Major Congenital Anomalies in Kenya

Birth Defects Research, Volume 118, Issue 2, February 2026.
ABSTRACT Background Congenital anomalies (CAs) are a major cause of childhood mortality and disability in low‐ and middle‐income countries. Our study explored caregiver experiences of infants with major CAs in Kenya and co‐developed interventions using human‐centered design (HCD).
Audrey Chepkemoi, Molly McPheron, Violet Naanyu, James G. Carlucci, Caroline Kerich, Winnie Matelong, Harold Kooreman, Megan S. McHenry, Caitlin Bernard, Marylydia Kiano, Roselyn Midiwo, Beverly Musick, Constantin T. Yiannoutsos, Kara Wools‐Kaloustian, Rena C. Patel, Edwin Were, John M. Humphrey, on behalf of EA‐IeDEA consortium   +17 more
wiley   +1 more source

Comorbidities at MS Diagnosis and Their Association With Treatment Persistence: Real‐World Clinical Data

Brain and Behavior, Volume 16, Issue 2, February 2026.
Comorbidity was present in approximately half of the patients with relapsing‐remitting multiple sclerosis in this Finnish cross‐sectional cohort. Comorbidities, especially psychiatric diseases, were associated with lower persistence on injectable disease‐modifying treatments.
Henrik Ahvenjärvi, Ida Lund, Anne M. Portaankorva, Johanna Krüger, Mervi Ryytty   +4 more
wiley   +1 more source

Clubfoot: an updated review

Journal of the Foot & Ankle
Congenital talipes equinovarus, commonly referred to as clubfoot, is one of the most frequent congenital deformities of the lower limb. Over the last few decades, a major paradigm shift has occurred in its management, with the Ponseti method becoming ...
Alexandre Francisco de Lourenço
doaj   +1 more source

Severe Nonketotic Hyperglycinemia in Twins Caused by GLDC Variants: The Importance of Accurate Prenatal Variant Interpretation, Counseling, and VUS Disclosure

Prenatal Diagnosis, Volume 46, Issue 8, Page 1294-1297, July 2026.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 more
wiley   +1 more source