Results 51 to 60 of about 244,602 (192)

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Heritability of clubfoot: A twin study

Journal of Children's Orthopaedics, 2014
Introduction The aetiology of congenital clubfoot is unclear. Although studies on populations, families, and twins suggest a genetic component to the aetiology, other studies have identified environmental factors.
Vilhelm Engell, Jan Nielsen, Frank Damborg, Kirsten Ohm Kyvik, Karsten Thomsen, Niels Wisbech Pedersen, Mikkel Andersen, Søren Overgaard   +7 more
doaj   +1 more source

Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology

Folia Medica, 2017
Background: Clubfoot is one of the most common congenital limb deformities. Prenatal diagnosis of the condition is essential as it can help treat the malformation as early as possible.
Faldini Cesare, Fenga Domenico, Sanzarello Ilaria, Nanni Matteo, Traina Francesco, Rosa Michele Attilio A.   +5 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

A national survey of musculoskeletal impairment in Rwanda: prevalence, causes and service implications. [PDF]

, 2008
BACKGROUND: Accurate information on the prevalence and causes of musculoskeletal impairment (MSI) is lacking in low income countries. We present a new survey methodology that is based on sound epidemiological principles and is linked to the World Health ...
Rischewski, D, Simms, V, Nuhi, Assuman, Rischewski Dorothea, Foster, Allen, Kuper Hannah, Foster, A, Dorothea Rischewski, Allen Foster, Atijosan Oluwarantimi, Linganwa, Bonaventure, Linganwa, B, Lavy, Christopher, Hannah Kuper, Nuhi, A, Atijosan, Oluwarantimi, Linganwa Bonaventure, Simms, Victoria, Bonaventure Linganwa, Nuhi Assuman, Lavy, C, Victoria Simms, Lavy, Chris, Simms Victoria, Kuper, Hannah, Kuper, H, Atijosan, O, Assuman Nuhi, Rischewski, Dorothea, Foster Allen, Lavy Chris, Oluwarantimi Atijosan, Chris Lavy   +32 more
core   +2 more sources

Does Percutaneous Achilles Tenotomy Yield Comparable Short-Term Outcomes to Combined Open Achilles Tenotomy with Posterior Capsulotomy in Pediatric Patients with Clubfoot?

Foot & Ankle Orthopaedics, 2019
Category: Hindfoot, Midfoot/Forefoot, Congenital Introduction/Purpose: As the most common musculoskeletal congenital anomaly, clubfoot (congenital talipes equinovarus) represents a commonly-encountered entity for pediatric orthopaedic and foot/ankle ...
Marine Coste BA, Mikhail Tretiakov MD, Neil V. Shah MD, MS, Daniel M. Zuchelli MD, Joanne C. Dekis MD, Scott C. Pascal MD, Leslie N. Davidson MD, Claude B. Scott MD, PhD, Khalid Hesham MD, Jaime A. Uribe MD   +9 more
doaj   +1 more source

Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients

Children, 2018
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person’s mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel   +5 more
doaj   +1 more source

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

European Journal of Neurology, Volume 33, Issue 9, September 2026.
Clinical variability in CHRND‐related congenital myasthenic syndrome ranges from isolated ocular involvement to severe neonatal‐onset disease with respiratory insufficiency. In a multicenter cohort of nine patients, ocular symptoms represented the core phenotype, while disease severity was influenced by genotype and presumed residual acetylcholine ...
David Muhmann, Göknur Haliloğlu, Maria Antonia Grimalt, Damjan Osredkar, Ana Vesperinas Castro, Silvia Cerezo Corredera, Angela Abicht, Adalet Elçin Yıldız, Johann Böhm, Ulrike Schara‐Schmidt, Anja Troha Gergeli, Berta Estevez‐Arias, Elena Cortes Vicente, Andres Nascimento, Adela Della Marina, Daniel Natera‐de Benito, Andreas Roos   +16 more
wiley   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Environmental toxicants may disrupt developmental pathways via strong molecular docking interactions with hub FGF proteins (FGF9 and FGF4) like dibenzo‐p‐dioxin (−7.2 kcal/mol) at the ASN146 residue of FGF9, driving congenital malformations as revealed by PPI networks and toxicity profiling.
Adarsh Kumar Shukla, Rashmi Mahajan, Anuj Kumar Tyagi, Kamendra Swaroop   +3 more
wiley   +1 more source

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu, Xueqin Cheng, Bixia Zheng, Chunli Wang, Wei Zhou, Aihua Zhang   +5 more
wiley   +1 more source