Results 51 to 60 of about 242,527 (213)

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

Operative management of congenital talipes equinovarus deformity: experience and reason

, 2006
Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject.
Cosmas O Ihezie, Paul C Ogugua, Ihezie, Cosmas O, Nwadinigwe, Cajetan U, Friday E Aaron, Aaron, Friday E, Ogugua, Paul C, Cajetan U Nwadinigwe   +7 more
core   +1 more source

Musculoskeletal impairment survey in Rwanda: design of survey tool, survey methodology, and results of the pilot study (a cross sectional survey). [PDF]

, 2007
BACKGROUND: Musculoskeletal impairment (MSI) is an important cause of morbidity and mortality worldwide, especially in developing countries. Prevalence studies for MSI in the developing world have used varying methodologies and are seldom directly ...
Rischewski, D, Simms, V, Lavy, C, Rischewski Dorothea, Victoria Simms, Christopher Lavy, Kuper Hannah, Lavy Christopher, Simms Victoria, Atijosan Oluwarantimi, Dorothea Rischewski, Kuper, Hannah, Lavy, Christopher, Kuper, H, Hannah Kuper, Atijosan, O, Rischewski, Dorothea, Atijosan, Oluwarantimi, Simms, Victoria, Oluwarantimi Atijosan   +19 more
core   +2 more sources

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Late Recognition of Suspected Ehlers‐Danlos Syndrome After Recurrent Small‐Bowel Perforations: A Case Report

Journal of General and Family Medicine, Volume 27, Issue 5, September 2026.
ABSTRACT Background Ehlers‐Danlos syndrome (EDS) may be overlooked when gastrointestinal and musculoskeletal findings are assessed separately. Case Presentation An older woman with two previous small‐bowel perforations had bilateral congenital hip dislocation, recurrent shoulder dislocations, skin hyperextensibility, and muscularis propria thinning in ...
Norio Horiguchi, Etsuko Hisanaga, Hiroko Sato, Kuniko Yoshida, Akihito Kimura, Ayumi Ito, Miki Horita, Aya Suzuki, Keiko Kawai‐Kowase   +8 more
wiley   +1 more source

Tibial torsion measured by ultrasound in children with talipes equinovarus

, 1991
Previous clinical studies have studied tibiofibular torsion by measuring the angular difference between a proximal (often bicondylar) plane and a distal bimalleolar plane.
JC Theis, M Krishna, A Sprigg, R Evans, JF Taylor   +4 more
core   +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

Congenital talipes equinovarus: II. A staged method of surgical management

, 1987
A staged method of surgical management for congenital talipes equinovarus is described. The hindfoot was corrected and rebalanced early in 125 feet, and in 66 feet a second-stage medial forefoot correction was performed in the second, third or fourth ...
RW Porter
core   +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

Talipes Equinovarus (TEV) and VACTERL Associated Anomalies: Narrative Literature Review [PDF]

, 2022
Clubfoot or known as Talipes Equinovarus (TEV), is a common anomaly in world population of newborn. This condition was reported in many studies as isolated anomaly but may come with other associated congenital anomalies.
Faesal A Maodah, Yunus Abdul Bari, Arianto, Huda Fajar   +2 more
core   +1 more source