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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 +9 more
doaj +1 more source
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 +5 more
wiley +1 more source
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 +5 more
doaj +1 more source
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 +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1719-1724, July 2026.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
ELECTROPHYSIOLOGICAL SUBSTANTIATION OF EFFICACY OF CONGENITAL CLUBFOOT SURGICAL TREATMENT
Travmatologiâ i Ortopediâ Rossii, 2012 Purpose - a complex assessment of the neuromuscular apparatus in different age groups of children with congenital clubfoot before and after surgery. Material and methods.
I. Y. Klychkova +2 more
doaj +1 more source
ETIOPATHOGENESIS OF CONGENITAL CLUBFOOT
, 2023 Congenital clubfoot is one of the most common congenital malformations, affecting 1-3 per 1000 live births and occurring twice as often in male fetuses. Although it is called congenital, it is not an embryonic malformation but is a developmental deformity that occurs in the second trimester of pregnancy.
Sandrosean Argentina Petru +1 more
openaire +2 more sources
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Incidence of congenital clubfoot in Sweden
Acta Orthopaedica, 2006 Idiopathic clubfoot is one of the most common congenital orthopedic problems. Nationwide studies of the incidence are scarce. We performed a prospective multicenter study in order to assess the cumulative incidence in Sweden over 2 consecutive years.44 clinics identified as treating clubfoot reported new cases prospectively.
Henrik, Wallander +2 more
openaire +2 more sources
Health 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