Results 61 to 70 of about 2,928 (214)

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

Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound

, 2000
Congenital talipes equinovarus is a common anomaly which can now be diagnosed prenatally on a routine ultrasound scan at 20 weeks of gestation. Prenatal counselling is increasingly offered to parents with affected fetuses, but it is difficult to counsel
R. L. Tillett, K. Murphy, D. M. Hunt, N. M. Fisk   +3 more
core   +1 more source

Freeman-Sheldon Syndrome: A Rare Case Report with Dental Perspective

Prague Medical Report
Freeman-Sheldon syndrome is a rare form of multiple congenital contracture syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis. The main skeletal malformations include camptodactyly with ulnar deviation and talipes equinovarus
Sahil Mustafa Kidwai, Suman Sen, Nikil Kumar Jain, Sudhir Ramesh Maheshkar   +3 more
doaj   +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

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

Prenatal Diagnosis, EarlyView.
Christopher Connolly, Brian Muchmore, Mallory Wagner, Zineb Ammous, Mohannad Ibrahim, Catherine E. Keegan, Elizabeth G. Ames   +6 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

Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation

, 2016
An Italian team of orthopaedic surgeons joined Eritrean colleagues to perform a clinical study in ambulating children affected by neglected idiopathic congenital talipes equinovarus (clubfoot). This study reports the surgical strategy as well as clinical
PROSPERI, LUIGI, TRAINA, FRANCESCO, Yosief, M., FALDINI, CESARE, Tsegay, S., NANNI, MATTEO, PUNGETTI, CAMILLA, Tesfaghiorghi, S., Sanzarello, I.   +8 more
core   +1 more source

Turco’s Postero-Medial Release for Congenital Talipes Equino-Varus

Gomal Journal of Medical Sciences, 2004
Background: Talipes equino-varus is the most common congenital orthopaedic anomaly. There are various methods for its management. This study was conducted to determine the efficacy of Turco’s one stage postero-medial release in children with congenital ...
Shakir Hussain, Mohammad Inam, Mohammad Arif, Abdul Sattar, Mohammad Saeed   +4 more
doaj  

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

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source