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European Journal of Medical Genetics Jun 2022Congenital vertical talus (CVT), also known as "rocker-bottom foot", is a rare foot deformity associated with a dislocation of the talonavicular joint. Although genetic...
BACKGROUND
Congenital vertical talus (CVT), also known as "rocker-bottom foot", is a rare foot deformity associated with a dislocation of the talonavicular joint. Although genetic causes of CVT have been described in single isolated and syndromic families, whole-exome sequencing (WES) of large cohorts have not yet been reported.
METHODS
In this study, 62 probands with CVT were evaluated for likely causative single nucleotide variants (SNVs) and copy number variants (CNVs) using WES. Segregation of variants within families was determined by Sanger sequencing.
RESULTS
In this cohort, CVT occurred as an isolated anomaly in 75.8% (47/62) and was familial in 19.3% (12/62) of cases. Analysis of WES data led to the identification of likely causative variants in known disease genes in 30.6% (19/62) of all CVT probands. More than one proband had likely causative SNVs in TSHZ1, GDF5, and LMX1B. Only two probands had likely causative CNVs: a chromosome 12q13.13 deletion of the 5' HOXC gene cluster, and a chromosome 18q22.3q23 deletion involving TSHZ1. Familial CVT was strongly predictive of identifying a molecular diagnosis [75% (9/12) of familial cases compared to 20% (10/50) of non-familial cases (Chi-square test, P-value = 0.0002)]. There was no difference in the solved rate based on isolated or syndromic presentation, unilateral or bilateral affectation, or sex.
CONCLUSIONS
CVT is genetically heterogeneous and more often caused by SNVs than CNVs. There is a high yield of WES in familial CVT cases (∼75%). Additional research is needed to identify the causes of sporadic CVT, which had much lower solved rates.
Topics: Chromosome Deletion; DNA Copy Number Variations; Exome; Flatfoot; Humans; Pedigree; Exome Sequencing
PubMed: 35487415
DOI: 10.1016/j.ejmg.2022.104514 -
The Journal of the American Academy of... Oct 2014Most children with flatfeet are asymptomatic and will never require treatment. In general, flatfoot deformity is flexible and will not cause pain or disability; it is a... (Review)
Review
Most children with flatfeet are asymptomatic and will never require treatment. In general, flatfoot deformity is flexible and will not cause pain or disability; it is a normal variant of foot shape. Thus, it is essential to reassure and educate patients and parents. A flatfoot with a contracture of the Achilles tendon may be painful. In these cases, a stretching program may help relieve pain. Scant convincing evidence exists to support the use of inserts or shoe modifications for effective relief of symptoms, and there is no evidence that those devices change the shape of the foot. The surgeon must be vigilant to identify the rare rigid flatfoot. Indications for flatfoot surgery are strict: failure of prolonged nonsurgical attempts to relieve pain that interferes with normal activities and occurs under the medial midfoot and/or in the sinus tarsi. In nearly all cases, an associated contracture of the heel cord is present. Osteotomies with supplemental soft-tissue procedures are the best proven approach for management of [corrected] flatfoot.
Topics: Adolescent; Child; Flatfoot; Foot Orthoses; Humans; Osteotomy; Shoes
PubMed: 25281257
DOI: 10.5435/JAAOS-22-10-623 -
Foot and Ankle Clinics Sep 2020Adult acquired flatfoot deformity (AAFD) as a consequence of posterior tibial tendon dysfunction is commonly divided in flexible (stages I and II) and fixed (stages III... (Review)
Review
Adult acquired flatfoot deformity (AAFD) as a consequence of posterior tibial tendon dysfunction is commonly divided in flexible (stages I and II) and fixed (stages III and IV) deformities. The aim of this article is to summarize the evidence available for minimally invasive surgical techniques that can be used in the treatment of flexible AAFD, including tibialis posterior tendoscopy, subtalar arthroereisis, minimally invasive calcaneal osteotomy, and medial proximal gastrocnemius recession. A treatment algorithm and technical tips have also been provided.
Topics: Flatfoot; Foot Deformities, Acquired; Humans; Minimally Invasive Surgical Procedures; Osteotomy; Posterior Tibial Tendon Dysfunction
PubMed: 32736743
DOI: 10.1016/j.fcl.2020.05.007 -
Clinics in Podiatric Medicine and... Jan 2020The adult acquired flatfoot deformity resulting from posterior tibial tendon dysfunction is the result of rupture of the posterior tibial tendon as well as key ligaments... (Review)
Review
The adult acquired flatfoot deformity resulting from posterior tibial tendon dysfunction is the result of rupture of the posterior tibial tendon as well as key ligaments of the ankle and hindfoot. Kinematic studies have verified certain levels of deformity causing hindfoot eversion, lowering of the medial longitudinal arch and forefoot abduction. The condition is progressive and left untreated will cause significant disability. Bracing with ankle-foot orthoses has shown promising results in arresting progression of deformity and avoiding debilitating surgery. Various types of ankle-foot orthoses have been studied in terms of effects on gait as well as efficacy in treatment.
Topics: Adult; Aged; Flatfoot; Humans; Middle Aged; Orthotic Devices; Posterior Tibial Tendon Dysfunction
PubMed: 31735271
DOI: 10.1016/j.cpm.2019.08.007 -
Clinical Obesity Apr 2015Children with obesity report musculoskeletal pain more than normal-weight children; this may be linked with literature suggesting children with obesity have higher... (Review)
Review
Children with obesity report musculoskeletal pain more than normal-weight children; this may be linked with literature suggesting children with obesity have higher prevalence of pes planus (flatfoot). To further elucidate whether this relation occurs, we conducted a systematic literature review on the co-occurrence of pes planus and paediatric obesity. Empirical articles published until September 2013 were obtained through an electronic search of MEDLINE and SPORTDiscus; included articles examined the association between body weight and pes planus in children. Thirteen cross-sectional studies of varied designs were identified. Methods used to diagnose pes planus varied between studies: imaging modalities, anthropometric measurements and clinical examination. Across all studies, pes planus prevalence among children with obesity ranged widely from 14 to 67%. Nearly all studies indicated increasing pes planus in children with increasing weight. No studies evaluated pain/complications related to pes planus. Our review suggests increased prevalence of pes planus among children with obesity or increasing weight status. Because of differing methodologies, lack of consensus regarding the pes planus definition, the dearth of investigation into pain/complications and the few existing studies, more research is needed to determine a relation between children's body weight, pes planus and associated effects on pain and function.
Topics: Age Factors; Comorbidity; Flatfoot; Foot; Humans; Pain; Pediatric Obesity; Prevalence
PubMed: 25808780
DOI: 10.1111/cob.12091 -
Foot (Edinburgh, Scotland) Sep 2023AAFD comprises ligamentous failure and tendon overload, mainly focused on the symptomatic posterior tibial tendon and the spring ligament. Increased lateral column (LC)... (Review)
Review
AAFD comprises ligamentous failure and tendon overload, mainly focused on the symptomatic posterior tibial tendon and the spring ligament. Increased lateral column (LC) instability arising in AAFD is not defined or quantified. This study aims to quantify the increased LC motion in unilateral symptomatic planus feet, using the contralateral unaffected asymptomatic foot as an internal control. In this case matched analysis, 15 patients with unilateral stage 2 AAFD foot and an unaffected contralateral foot were included. Lateral foot translation was measured as a guide to spring ligament competency. Medial and LC dorsal sagittal instability were assessed by direct measurement of dorsal 1st and 4th/5th metatarsal head motion and further video analysis. The mean increase in dorsal LC sagittal motion (between affected vs unaffected foot) was 5.6 mm (95% CI [4.63-6.55], p < 0.001). The mean increase in the lateral translation score was 42.8 mm (95% CI [37.48-48.03], p < 0.001). The mean increase in medial column dorsal sagittal motion was 6.8 mm (95% CI [5.7-7.8], p < 0.001). Video analysis also showed a statistically significant increase in LC dorsal sagittal motion between affected and unaffected sides (p < 0.001). This is the first study that quantifies a statistically significant increased LC dorsal motion in feet with AAFD. Understanding its pathogenesis and its link to talonavicular/spring ligament laxity improves foot assessment and may allow the development of future preventative treatment strategies.
Topics: Humans; Adult; Flatfoot; Foot; Ligaments, Articular; Tendons; Tarsal Joints
PubMed: 37271102
DOI: 10.1016/j.foot.2023.102036 -
The Journal of Foot and Ankle Surgery :... 2023Pain in the flexible flatfoot is a common complaint, if present it is important to find its exact location and causes Therefore, the study aimed to find differences...
Pain in the flexible flatfoot is a common complaint, if present it is important to find its exact location and causes Therefore, the study aimed to find differences between children with and without medial arch pain and relate them to the reduction of pain following surgical treatment. Children with idiopathic flexible flatfeet were retrospectively included in the study. All children underwent a clinical, radiographic, and gait examination. The feet were subdivided into 2 groups: asymptomatic and those with medial arch pain. Factors associated with medial arch pain were identified via t test. Significant radiological and gait parameters were correlated to the change in medial arch pain score following surgery. Included were 322 feet belonging to 177 children, with the mean age of 11.8 (SD = 2.2) years. The pain was perceived in 52% of the feet, of these, 74% in the medial arch. In the group with pain, 31 feet received a gait analysis following surgery. The radiological parameters, talus-1 and -2 metatarsal angles and the gait parameter, calcaneal lateral shift during walking showed a significant difference (p ≤ .004) between the no pain and pain groups and were associated (R ≥0.14, p ≤ .04) with the reduction in pain following surgery. The increased talus-1 and -2 metatarsal angles and the calcaneal lateral shift may cause increased tension on the soft-tissues along the medial side of the foot and may produce pain. Therapies aiming at improving the medial arch pain should be directed to normalize the talus-1 or -2 metatarsal angles and the calcaneal lateral shift.
Topics: Humans; Child; Flatfoot; Retrospective Studies; Foot; Calcaneus; Gait; Pain
PubMed: 36822970
DOI: 10.1053/j.jfas.2023.01.008 -
Foot and Ankle Clinics Jun 2021Flatfoot deformity consists of a loss of medial arch, hindfoot valgus, and forefoot abduction. Historically considered a posterior tendon insufficiency, multiple... (Review)
Review
Flatfoot deformity consists of a loss of medial arch, hindfoot valgus, and forefoot abduction. Historically considered a posterior tendon insufficiency, multiple ligament damage and subsequent incompetence explain the different clinical presentations with varying degrees of deformity. When surgery is deemed necessary, depending on the apex of the deformity, skeletal and soft tissue procedures are considered to keep motion and restore function. Osteotomies are considered at every level where an apex of deformity is found. The recently designated tibiocalcaneonavicular ligament comprises the older superficial and deep deltoid and spring ligaments; its repair or reconstruction should be considered in most flatfoot cases.
Topics: Flatfoot; Foot; Foot Deformities, Acquired; Humans; Ligaments, Articular; Tendons
PubMed: 33990259
DOI: 10.1016/j.fcl.2021.03.010 -
The Journal of Foot and Ankle Surgery :... 2016
Topics: Flatfoot; History, 18th Century; History, 19th Century; History, 20th Century; Humans; Male; Military Personnel; Occupational Diseases; United States
PubMed: 26980056
DOI: 10.1053/j.jfas.2016.01.028 -
Journal of Orthopaedic Surgery and... Feb 2019Adult acquired flatfoot deformity (AAFD) represents a spectrum of deformities affecting the foot and the ankle. The optimal management of AAFD remains controversial. We... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Adult acquired flatfoot deformity (AAFD) represents a spectrum of deformities affecting the foot and the ankle. The optimal management of AAFD remains controversial. We evaluated the efficacy of surgical treatments of AAFD using both direct and indirect evidences.
METHODS
We searched PubMed, EmBase, and the Cochrane Library to identify eligible studies conducted through November 2018. To compare different surgical strategies, we performed a network meta-analysis. A traditional meta-analysis using a random-effects model was used to evaluate the pooled outcome.
RESULTS
A total of 21 studies including 498 patients were collected and analyzed. Network meta-analysis results based on lateral angle talocalcaneal-calcaneal pitch (LAT-CP) indicated that medial displacement calcaneal osteotomy (MDCO) has the highest probability to be the best course of AAFD treatment. However, analyses based on anteroposterior talo-first metatarsal (AP-TMT1) and lateral angle talocalcaneal talo-first metatarsal (LAT-TMT1) suggested that lateral column lengthening (LCL) was the best treatment, while those based on lateral angle talocalcaneal-arch height, anteroposterior talocalcaneal (AP-TC), lateral angle talocalcaneal-talocalcaneal (LAT-TC), anteroposterior-talonavicular coverage (AP-TNC), talonavicular coverage (TNC), and the American Orthopedic Foot and Ankle Society (AOFAS) indicated triple arthrodesis (TAO) as the best treatment. Moreover, double arthrodesis (DAO) provided the best treatment effect on the function score. Furthermore, according to traditional meta-analysis, the summary of standardized mean differences (SMD) indicated that the surgical interventions are associated with significant improvements in LAT-CP (SMD - 1.78), LAT-arch height (SMD - 4.95), AOFAS (SMD - 5.24), AP-TMT1 (SMD 2.45), LAT-TMT1 (SMD 1.97), AP-TC (SMD 3.05), LAT-TC (SMD 2.20), AP-TNC (SMD 2.07), TNC (SMD 1.70), and function score (SMD 0.95).
CONCLUSIONS
Our findings indicated that MDCO, LCL, TAO, or DAO might be the best surgical approaches for AAFD treatment. Furthermore, patients who received surgical interventions had significant improvements in symptoms and function.
Topics: Adult; Flatfoot; Humans; Network Meta-Analysis; Treatment Outcome
PubMed: 30791933
DOI: 10.1186/s13018-019-1094-0