Results 61 to 70 of about 265,498 (210)

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

open access: yesBritish 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   +7 more
wiley   +1 more source

Amniotic band syndrome

open access: yesArchives of Medicine and Health Sciences, 2018
Amniotic band syndrome is a rare and complex congenital disorder characterized by constricting rings, acrosyndactyly, or often amputations of extremities of neonates.
Umma Abdullahi Idris
doaj   +1 more source

Accelerated versus conventional Ponseti protocol for the treatment of idiopathic talipes equinovarus deformity: A short term follow up in Iraq

open access: yesZanco Journal of Medical Sciences, 2021
Background and objective: The accelerated protocol of Ponseti method was suggested to shorten the period of treatment of the conventional one for the cases of talipes equinovarus deformity.
Jagar Omar Doski   +1 more
doaj   +1 more source

Congenital talipes equinovarus: I. Resolving and resistant deformities

open access: yes, 1987
Comparisons were made between 54 children with resolving congenital talipes equinovarus deformity and 81 children whose feet required surgical correction.
RW Porter
core   +1 more source

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

open access: yesJournal 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   +8 more
wiley   +1 more source

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

open access: yesEuropean 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   +16 more
wiley   +1 more source

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

open access: yesMolecular 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   +5 more
wiley   +1 more source

Talectomy For Recurrent And Resistant Talipes Equinovarus

open access: yes, 2004
OBJECTIVE: To report the results of talectomy in the treatment of recurrent/resistant talipes equinovarus deformity during the last twenty years at the National Orthopaedic Hospital Enugu. Nigeria.
CU Nwadinigwe, Nwadinigwe, CU
core   +1 more source

Evaluation of Ponseti method in correction of congenital talipes equinovarus [PDF]

open access: yes, 2018
<p class="abstract"><strong>Background:</strong> Congenital idiopathic clubfoot is a complex foot deformity often requires many months of treatment and frequently resulted in incomplete or defective correction by older methods ...
Shinde, Gopal M.   +9 more
core   +1 more source

Clinical and Genetic Spectrum of Filippi Syndrome: A Systematic Review of Published Case Reports and Case Series

open access: yesHealth Science Reports, Volume 9, Issue 7, July 2026.
ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem   +9 more
wiley   +1 more source

Home - About - Disclaimer - Privacy