Results 31 to 40 of about 7,914 (209)

Genotype-phenotype correlation in clubfoot (talipes equinovarus)

, 2022
Clubfoot (talipes equinovarus) is a congenital malformation affecting muscles, bones, connective tissue and vascular or neurological structures in limbs. It has a complex aetiology, both genetic and environmental.
Hordyjewska-Kowalczyk, Ewa, Jamsheer, A., Jamsheer, Aleksander, Nowosad, K., Nowosad, Karol, Tylzanowski, Przemko, Hordyjewska-Kowalczyk, E., Tylzanowski, P.   +7 more
core   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Prevalence and pattern of congenital clubfoot among less than 5-year-old children in Ethiopia; cross-sectional based study

BMC Musculoskeletal Disorders
Background Clubfoot is one of the most common congenital malformations, but it is also one of the most neglected public health problems among less than five-year-old children, mainly in middle- and low-income countries.
Seid Mohammed Abdu, Girma Seyoum, Birhanu Ayana   +2 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Congenital clubfoot in Europe: A population-based study [PDF]

, 2019
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT ...
Addor, Marie-Claude, Addor, M.C., Verellen-Dumoulin, Christine, Barisic, I., de Walle, Hermien E.K., O'Mahony, M., Bailey, Linda M., Addor, Marie Claude, Klungsøyr, Kari, Mokoroa, Olatz, Neville, Amanda, Dolk, H., Pierini, Anna, Nelen, V., Barisic, Ingeborg, Rissmann, A., Mokoroa, O., de Jong-van den Berg, LTW, de Walle, HEK, Khoshnood, Babak, deJong-van den Berg, Lolkje, Verellen-Dumoulin, C., Neville, A.J., Klungsoyr, K., Garne, E., Loane, M., Pierini, A., de Jong van den Berg, Lolkje T.W., Wisniewska, Katarzyna, Wang, H., Khoshnood, B., Klungsoyr, Kari, Rissmann, Anke, Bailey, Linda, Nelen, Vera, Bailey, L.M., Dolk, Helen, Gatt, Miriam, Garne, Ester, deWalle, Hermien, O'Mahony, Mary, de Jong-van den Berg, Lolkje T. W., Wiesel, A., Neville, Amanda J., Wiesel, Awi, de Walle, Hermien E. K., Klungosyr, Kari, de Jong-van den Berg, Lolkje T.W., Gatt, M., Wisniewska, K., Loane, Maria, Wang, Hao   +51 more
core   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot [PDF]

, 2012
Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of clubfoot is varied and the causes of isolated clubfoot are not well understood. A microduplication
Vella, M, Bacino, C A, Ahituv, N, C. Alvarez, VanderMeer, JE, M. Vella, J.E. VanderMeer, Richards, BS, N. Sikka, VanderMeer, J E, J.T. Hecht, Bacino, CA, C.A. Bacino, F.R. Dietz, Blanton, S H, Alvarez, C, Blanton, SH, S.H. Blanton, B.S. Richards, W. Lu, Hecht, J T, Richards, B S, Sikka, N, Dietz, FR, Dietz, F R, Hecht, JT, N. Ahituv, Lu, W   +27 more
core   +1 more source

Gait in 5-year-old children with idiopathic clubfoot: A cohort study of 59 children, focusing on foot involvement and the contralateral foot

Acta Orthopaedica, 2016
Background and purpose — Idiopathic clubfoot can be bilateral or unilateral; however, most studies of gait have assessed clubfoot cases as one uniform group.
Elin Lööf, Hanneke Andriesse, Marie André, Stephanie Böhm, Eva W Broström   +4 more
doaj   +1 more source

Availability and readability of online patient information on clubfoot: Assessment of paediatric hospital clubfoot web pages

Journal of Children's Orthopaedics, 2021
Purpose To determine the availability and readability of online patient information (OPI) provided by paediatric hospitals in the United States using clubfoot as a model condition Methods The websites of the top 95 paediatric hospitals identified using ...
Michael Xie, Jason Young, Collin May
doaj   +1 more source