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

