Materiały źródłowe

• #1 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Also known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. […] Even though it has been widely researched, the etiology of ICTEV remains poorly understood and is often described as being based on a multifactorial genesis. Genetic and environmental factors seem to have a major role in the development of this disease. […] Emerging evidence suggests a role of several pathways and gene families associated with limb development (HOX family; PITX1-TBX4), the apoptotic pathway (caspases), and muscle contractile protein (troponin and tropomyosin), but a major candidate gene has still not been identified. Strong recent evidence emerging from twin studies confirmed major roles of genetics and the environment in the disease pathogenesis.

• #2 Clubfoot in children: An overview | The Foot and Ankle Online Journal

  http://faoj.org/2020/12/31/clubfoot-in-children-an-overview/

  Clubfoot is a case of complex defects affecting mostly newborns and children. […] In this article, we aimed to highlight clubfoot focusing pathological anatomy of clubfoot and consequent management options. […] Clubfoot shows main anatomical defects including foot cavus, adduction, varus and equinus; the most prominent bony defect has been found in foot talus. […] Understanding the pathological anatomy of such cases facilitates their management. […] Although many researchers have tried to clarify the pathogenesis of congenital clubfoot, the exact cause is still obscure. […] In this review, we highlight the clubfoot and its pathological anatomy in a trial for more understanding of its pathogenesis, and hence its proper management. […] Despite the cause of the clubfoot is still uncertain to treat the cases accordingly, knowledge of the pathological anatomy remains the main guide in repair and management.

• #3 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8339820/

  Several studies have described the pathology of idiopathic congenital clubfoot (ICCF) in fetus. […] Pathologic studies in fetus together with MRI studies in patients with ICCF seem to favor the theory of a muscular imbalance of the foot activators during fetal growth as the main pathogenetic factor of ICCF. […] The authors postulate that a defect of both the radial and the longitudinal growth unevenly affecting the leg muscles with a consequent imbalance of the foot activators might be the main pathogenetic factor of ICCF. […] Many pathogenetic theories have been postulated in ICCF, but some of them have been based on assumptions lacking any objective evidence. […] The theory of muscle imbalance caused by a non-neurologic etiologic factor that impaired muscle growth was first proposed by Bechtol and Mossman, who dissected the unilateral ICCF of a 12-week-old fetus in which the foot deformity was caused only by the subluxation of the tarsal joints without any deformity of the tarsal bones.

• #4 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  Several studies have described the pathology of idiopathic congenital clubfoot (ICCF) in fetus. Numerous pathogenetic theories have been postulated on ICCF, but many of them lack any objective evidence. Pathologic studies in fetus together with MRI studies in patients with ICCF seem to favor the theory of a muscular imbalance of the foot activators during fetal growth as the main pathogenetic factor of ICCF. […] The authors postulate that a defect of both the radial and the longitudinal growth unevenly affecting the leg muscles with a consequent imbalance of the foot activators might be the main pathogenetic factor of ICCF. […] Many pathogenetic theories have been postulated in ICCF, but some of them have been based on assumptions lacking any objective evidence. […] A theory of retracting fibrosis involving the soft tissues of the posteromedial aspect of the leg and foot has been supported by the histologic observation of increased fibrous tissue within the ligaments, fasciae muscles and tendon sheaths.

• #4 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  Dietz postulated the theory of a regional growth disorder, supported by two clinical observations. First, the leg and foot are smaller than normal in ICCF—the reduction of foot and leg size being more marked in severe deformities—and second, relapse in a corrected clubfoot occurs during the rapid growth period of the foot. […] The theory of muscle imbalance caused by a non-neurologic etiologic factor that impaired muscle growth was first proposed by Bechtol and Mossman, who dissected the unilateral ICCF of a 12-week-old fetus in which the foot deformity was caused only by the subluxation of the tarsal joints without any deformity of the tarsal bones. […] This theory was later shared by other authors who reported atrophy and shortening of the leg muscles in fetuses affected by unilateral ICCF, mostly involving the posteromedial compartment of the leg. […] A preliminary histochemical study has shown a decrease of some muscle growth factors and the presence of myostatin that inhibits muscle growth in the soleus of children with ICCF, thus supporting our theory of impaired muscle growth.

• #5 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8339820/

  The tension could then be the deforming force producing the clubfoot. […] This theory was later shared by other authors who reported atrophy and shortening of the leg muscles in fetuses affected by unilateral ICCF, mostly involving the posteromedial compartment of the leg. […] A preliminary histochemical study has shown a decrease of some muscle growth factors and the presence of myostatin that inhibits muscle growth in the soleus of children with ICCF, thus supporting our theory of impaired muscle growth.

• #6 Foot deformities – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/foot-deformities/

  Dominant medial musculature; posterior tibial muscle is considered to be the muscle primarily responsible for the clubfoot (plantar flexion and supination, particularly of the hindfoot) […] Weak peroneus muscles […] Shortened Achilles tendon […] Pathogenesis: a muscular imbalance between the adduction muscles and fibularis muscles is suspected to be the underlying cause.

• #7 Clubfoot (Talipes): Practice Essentials, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/1237077-overview

  Various theories of the pathogenesis of clubfeet have been advanced, including the following: […] With respect to neurogenic factors, histochemical abnormalities have been found in posteromedial and peroneal muscle groups of patients with clubfeet. This is postulated to be due to innervation changes in intrauterine life secondary to a neurologic event, such as a stroke leading to mild hemiparesis or paraparesis. This is further supported by a 35% incidence of varus and equinovarus deformity in spina bifida. […] Retracting fibrosis (or myofibrosis) may occur secondary to increased fibrous tissue in muscles and ligaments. In fetal and cadaveric studies, Ponseti also found the collagen in all of the ligamentous and tendinous structures (except the Achilles [calcaneal] tendon), and it was very loosely crimped and could be stretched.

• #8 Ponseti Method For Idiopathic Congenital Clubfoot: A Study from Pakistan – medtigo Journal

  https://journal.medtigo.com/evaluation-of-the-outcomes-of-ponseti-method-in-the-treatment-of-idiopathic-congenital-clubfoot-deformity-in-tertiary-care-hospital-of-pakistan-a-descriptive-study/

  Pathophysiology of clubfoot: Several theories of the pathogenesis of clubfeet have developed, containing the following: […] With respect to neurogenic factors and histochemical abnormalities have been observed in posteromedial and peroneal muscle groups of patients with clubfeet. This is suggested to be due to innervation alterations in intrauterine life secondary to a neurologic event, such as a stroke leading to mild hemiparesis or paraparesis. This is further confirmed by a 35% occurrence of varus and equinovarus deformity in spina bifida. […] Retracting fibrosis (or myofibrosis) may follow secondary to grown fibrous tissue in muscles and ligaments. In fetal and cadaveric studies, Ponseti also observed the collagen in all the ligamentous and tendinous structures (except the Achilles (calcaneal) tendon), and it was very loosely crimped and could be stretched.

• #8 Ponseti Method For Idiopathic Congenital Clubfoot: A Study from Pakistan – medtigo Journal

  https://journal.medtigo.com/evaluation-of-the-outcomes-of-ponseti-method-in-the-treatment-of-idiopathic-congenital-clubfoot-deformity-in-tertiary-care-hospital-of-pakistan-a-descriptive-study/

  The Achilles tendon, on the other hand, was made up of tightly crimped collagen and was resistant to stretching. […] Zimny et al found myoblasts in medial fascia on electron microscopy and postulated that they initiate medial contracture. […] Inclan proposed that anomalous tendon insertions result in clubfeet. However, other studies have not supported this proposal. It is more likely that the distorted clubfoot anatomy can make it seem that tendon insertions are anomalous. […] Robertson noted seasonal variations to be a factor in his epidemiological studies in growing countries. This coincided with a similar variation in the incidence of poliomyelitis in the children in the community. Clubfoot was therefore suggested to be a sequela of an antenatal polio-like condition. This theory was further proven by motor neuron changes in the anterior horn in the spinal cord of these babies.

• #9 The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses | Bone & Joint

  https://boneandjoint.org.uk/doi/10.1302/0301-620X.76B3.8175852

  We studied 16 club feet and 27 normal feet from spontaneously aborted human fetuses in the second trimester of gestation and measured the length of the spring ligament, and the declination angle and size of the talus. […] Histomorphometric results indicated that the talar deformity was not the primary lesion. […] Histological and immunohistochemical findings showed that the cells and collagen fibres of the medial ankle ligaments of club feet appeared to be the site of the earliest changes, in that they had lost their spatial orientation and had contracted. […] In severe club feet before the third trimester of gestation, myofibroblast-like cells seemed to create a disorder of the ligaments resembling fibromatosis. This led to contraction and resulted in typical club-foot deformity.

• #10 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease. […] The etiology of CTEV is largely unknown. […] While the clinical presentation may be similar to the idiopathic form, secondary CTEV seems to derive from neuromuscular and fetal abnormalities involved in its etiopathogenesis, thus making ICTEV and syndromic CTEV rather different in clinical presentation, treatment, and proposed etiopathogenetic mechanism. […] ICTEV has historically been linked to several risk factors: oligohydramnios, smoking, parental age, parental education, parity, maternal anxiety or depression, alcohol use, and season of birth.

• #11 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Even though the role of environmental factors has been confirmed by several studies, all the proposed factors except for smoking were not significantly associated with ICTEV, which was linked to DNA oxidative damage caused by tobacco smoking. […] Genetics has a crucial role in the development of ICTEV, even though no major gene candidate has been identified. […] There is evidence of a family history of TEV in 2450% of cases. […] Results from twin studies showed concordance in monozygotic twins (32%) compared to dizygotic twins (2.9%), and a frequency of recurrence in 1020% of families supports a role for genes in ICTEV. […] The homeobox genes represent a family of transcription factors that play a central role in the morphogenesis processes of embryonic development. […] Several candidate gene studies found a locus of genetic susceptibility associated with ICTEV in the HOX domain and the caspase domain.

• #12 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Higher activity of the promotor was also reported as a result of promotor variation. […] Based on the emerging evidence, we can assume that perturbation to the HOXA, HOXC, and HOXD clusters of genes may play a role in the etiology and pathogenesis of ICTEV. […] Cysteine-dependent aspartate-directed proteases (caspases) are part of a family of cysteine proteases that play essential roles in apoptosis, necrosis, and inflammation processes. […] This family was investigated since caspase activity seems to be related to correct limb development, and related genes were first associated with ICTEV in 2005 by Heck et al. […] The T-box family comprises transcription factors that play a crucial role in embryogenesis and morphogenesis. […] The PITX1-TBX4 pathway is responsible for early limb development.

• #13 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Numerous studies report that mutations in the genes encoding the transcription factors PITX1 and TBX4 lead to a reduction in lower-limb musculature and classic clubfoot phenotypes in both humans and mice. […] The available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and lack of high-profile studies. […] Recent evidence shows a major role of both genetic and environmental factors. Thus far, smoking is the major environmental factor supported by recent evidence. The etiology of ICTEV is probably multifactorial and associated with multiple gene alterations, and large multi-center studies are required to investigate them.

• #14 Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01559-9

  Six families of genes have been reported to have an etiopathogenetic role on congenital clubfoot. […] The strongest evidence for the role of genetics regards the PITX1-TBX4 pathway, needed for normal hindlimb development. […] In isolated clubfoot phenotypes, dominant segregating mutation in PITX1, inherited microduplications of TBX and copy number variants have been described. […] The involvement of Homeobox (HOX) genes has also been reported. […] HOXD12 and HOXD13 single nucleotide polymorphisms (SNPs) have been associated with idiopathic clubfoot. […] Recently, HOXC microdeletions have been shown to overlap with a noncoding region upstream of HOXC13. […] The role of insulin-like growth factor binding protein (IGFBP3), HOXD13 gene and genes regulating caspase activity have also been evaluated.

• #15 Clubfoot – Wikipedia

  https://en.wikipedia.org/wiki/Clubfoot

  Mutations in genes involved in muscle development are risk factors for clubfoot, specifically those encoding the muscle contractile complex (MYH3, TPM2, TNNT3, TNNI2 and MYH8). These can cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. Clubfoot can also be present in people with genetic conditions such as Loeys-Dietz syndrome and Ehlers-Danlos syndrome. […] Genetic mapping and the development of models of the disease have improved understanding of developmental processes. Its inheritance pattern is explained as a heterogenous disorder using a polygenic threshold model. The PITX1-TBX4 transcriptional pathway has become key to the study of clubfoot. PITX1 and TBX4 are uniquely expressed in the hind limb.

• #16 The congenital clubfoot – immunohistological analysis of the extracell | ORR

  https://www.dovepress.com/the-congenital-clubfoot-immunohistological-analysis-of-the-extracellul-peer-reviewed-fulltext-article-ORR

  In order to better understand the pathogenesis of patients with primary clubfoot, we examined whether there are quantitative changes in the extracellular matrix (ECM; based on common interstitial collagens like CI and CIII, microfilamentous collagens like CVI, noncollagenous proteins like undulin, and enzymes like matrixmetalloproteinase [MMP]-2 and tissue inhibitor of matrixmetalloproteinase [TIMP]-2 that are known to play a role in fibrogenesis and fibrolysis) of muscles involved in the foot deformity of patients with primary clubfoot corresponding to fibrosis. […] In the present study, we found manifest fibrosis in gastrocnemius due to quantitative changes in the ECM. In contrast to other studies, we found increasing fibrosis not just in contracted tissues but also in the muscle itself. Further studies are needed to clarify whether these changes are primarily responsible for the malfunction or whether they occur secondarily in the consequence of the dysfunction.

• #17 The congenital clubfoot – immunohistological analysis of the extracell | ORR

  https://www.dovepress.com/the-congenital-clubfoot-immunohistological-analysis-of-the-extracellul-peer-reviewed-fulltext-article-ORR

  The results obtained clearly indicate changes in the ECM of M. gastrocnemius compared with M. quadriceps femoris as a result of fibrosis in patients with primary clubfoot. […] Changes in the ECM of the M. gastrocnemius are of fibroproliferative origin. In contrast to other studies, we found increasing fibrosis not only in contracted tissues but also in the muscle itself. There are no changes in the ECM of the M. tibialis anterior, so its participation seems to be secondary. Increasing fibrosis in M. gastrocnemius could be an indicator for a higher risk of relapse.

• #18 The possible role of hypoxia in the affected tissue of relapsed clubfoot | Scientific Reports

  https://www.nature.com/articles/s41598-022-08519-z

  Our aim was to study the expression of hypoxia-related proteins as a possible regulatory pathway in the contracted side tissue of relapsed clubfoot. […] We found a significant increase in the levels of smooth muscle actin, transforming growth factor-beta, hypoxia-inducible factor 1 alpha, lysyl oxidase, lysyl oxidase-like 2, tenascin C, matrix metalloproteinase-2, matrix metalloproteinase-9, fibronectin, collagen types III and VI, hemoglobin subunit alpha and hemoglobin subunit beta, and an overexpression of ACTA2, FN1, TGFB1, HIF1A and MMP2 genes in the contracted medial side tissue of clubfoot. […] Our results suggest that the hypoxia-associated pathway is potentially a factor contributing to the etiology of clubfoot relapses, as it stimulates both angioproliferation and fibroproliferation, which are considered to be key factors in the progression and development of relapses.

• #19 The possible role of hypoxia in the affected tissue of relapsed clubfoot | Scientific Reports

  https://www.nature.com/articles/s41598-022-08519-z

  The aim of the present study was to investigate the presence of hypoxia-related markers in the contracted tissue of relapsed clubfoot and to relate these findings with well-known cellular pathways in other diseases. […] We have detected an increase in HIF1A nuclear positivity in the contracted tissue of the relapsed clubfoot by means of IHC and also an increase in its mRNA expression, as detected by Real-time PCR. […] HIF1A is considered to be a marker of ongoing hypoxia, and a potent regulator of many genes, including VEGF and MMPs, influencing vascular remodeling and proliferation. […] Increased angiogenesis could also be indirectly promoted by MMP enzymes. […] We have detected an increase in MMP-2 and MMP-9 IHC positivity in the contracted M-side tissue of relapsed clubfoot, though without a significant increase in the expression of MMP2 or MMP9 genes.

• #20 The possible role of hypoxia in the affected tissue of relapsed clubfoot | Scientific Reports

  https://www.nature.com/articles/s41598-022-08519-z

  These data are consistent with the hypothesis of hypoxic fibrosis in relapsed clubfoot. […] We believe that the insights into the hypoxia-induced pathway, suggested by our findings, provide valuable information for future studies, which could subsequently provide conclusive evidence. […] Our findings are a contribution to knowledge of the etiology and pathogenesis of relapses in clubfoot therapy, and potentially a contribution to the development of a strategy for clubfoot therapy in the future.

• #21 Clubfoot (Talipes): Practice Essentials, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/1237077-overview

  Inclan proposed that anomalous tendon insertions result in clubfeet. […] However, other studies have not supported this proposal. It is more likely that the distorted clubfoot anatomy can make it appear that tendon insertions are anomalous. […] Robertson noted seasonal variations to be a factor in his epidemiologic studies in developing countries. […] This coincided with a similar variation in the incidence of poliomyelitis in the children in the community. Clubfoot was therefore proposed to be a sequela of an antenatal poliolike condition. This theory was further supported by motor neuron changes in the anterior horn in the spinal cord of these babies.

• #22 Clubfoot in children: An overview | The Foot and Ankle Online Journal

  http://faoj.org/2020/12/31/clubfoot-in-children-an-overview/

  Scarpa mentioned that the osseous defects in the talus are the primary causative factor in pathogenesis of the clubfoot. […] Other authors postulated that the calcaneus is the primary fault in pathogenesis of clubfoot attributing their suggestion to the ossification of the calcaneus that noticed to appear before that of talus. […] The main features include the followings: 1- Cavus: It is the increased convexity (or longitudinal arch) of the foot. […] 2- Adduction: The forefoot is adducted. […] 3- Varus: It is the inversion and adduction of the hindfoot. […] 4- Equinus: The entire foot shows an increased plantar flexion at the ankle joint. […] The soft structures on the medial and posterior aspects of the foot are shortened and thickened keeping the position of the foot in adduction and varus with equinus respectively.

• #23 clubfoot | The Foot and Ankle Online Journal

  http://faoj.org/tag/clubfoot/

  The main features include the followings: 1- Cavus: It is the increased convexity (or longitudinal arch) of the foot. […] 2- Adduction: The forefoot is adducted. […] 3- Varus: It is the inversion and adduction of the hindfoot. […] 4- Equinus: The entire foot shows an increased plantar flexion at the ankle joint. […] The soft structures on the medial and posterior aspects of the foot are shortened and thickened keeping the position of the foot in adduction and varus with equinus respectively. […] The most apparent change in the talus is found in its anterior part. […] The navicular bone is dislocated medially lying opposite the tibial malleolus. […] The calcaneus in clubfoot is generally of normal shape but slightly smaller than that of normal foot. […] Management of neglected and severe resistant rigid clubfoot represents a great challenge to orthopedic surgeons. This is because the excessive and extensive open surgical manipulations could lead to postoperative scarring and many complications. Therefore, talectomy has been suggested to be a salvage surgical method for correction of such cases of clubfoot.

• #24 Pathoanatomy of Congential Clubfoot : Wheeless’ Textbook of Orthopaedics

  https://www.wheelessonline.com/muscles-tendons/pathoanatomy-of-congential-clubfoot/

  – affected limb may be shortened, calf muscle is atrophic, and foot is short compared to opposite side; – medial rotation of tibia; – joints: – ankle and subtalar joints are in fixed equinus; – posterior displacement of lateral malleolus: (assess with patient prone and knee flexed to 90 degrees) – hindfoot: – heel is inverted (varus) – talus lies in a position of equinus, medial rotation (in the ankle mortise); – its head is palpable at sinus tarsi; – pronounced medial angulation of head and neck of talus; – calcaneus is in equinus, varus, and is rotated internally; – w/ more severe deformity, calcaneus may be difficult to palpate (because of the underlying fatty tissue); – midfoot: – no midtarsal mobility; – medial or transverse midfoot crease (indicates more severe deformity) – navicular displaced medially, and may abut the medial malleolus; – cuboid is medially displaced in relation to the long axis of the calcaneus (but to lesser degree than the navicular); – os calcis fixed to fibula – curved lateral foot border – forefoot: – forefoot and midfoot are inverted and adducted – forefoot cavus w/ depressed 1st metatarsal; – fixed forefoot supination relative to the hindfoot (forefoot varus);

• #25 Pathoanatomy of Congential Clubfoot : Wheeless’ Textbook of Orthopaedics

  https://www.wheelessonline.com/muscles-tendons/pathoanatomy-of-congential-clubfoot/

  – contracture of Achilles – tibialis posterior; – plantar aponeurosis; – abductor hallucis; – FDB (causing a cavus deformity of foot); – long toe flexor tendons; – ext. digitorum longus – tibialis anterior – extensor hallucis longus – contractures of spring, bifurcate, deltoid, calcaneofibular, talofibular ligaments; – calcaneonavicular (spring ligament): runs from sustenaculum tali to plantarmedial aspect of navicular; – Master Knot of Henry: – fibrous slip that envelops the FHL and FDL tendons; – binds the plantar medial surface of the navicular; […] – note that the dorsalis pedis artery is frequently not present in club foot and therfore special care must be taken to avoid injury to the posterior tibial artery during a posteromedial release;

• #26 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  Relapse is a recurrence of deformities in a previously corrected clubfoot. The etiology of relapse can be variable. Some of the predisposing factors that are predictive of relapse are drop toe signs, a lower ratio of correction improvement, and muscle imbalance. […] Children with a drop-toe sign have a high likelihood of relapse. The drop-toe sign involves, a resting position of the toes in plantarflexion along with no active toe extension in response to plantar stimulation of the foot. This finding was associated with the absent function of the anterior and lateral compartment muscles. […] Various factors have been attributed to the recurrence of the clubfoot. Recurrence could have multifactorial etiology. […] Some studies have proposed that a muscle imbalance may be a causative factor in the development of a relapsed deformity.

• #27 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  The ratio of correction improvement RCI (defined as initial Pirani score divided by the number of casts necessary to achieve the correction) value is an indicator of risk of recurrence. […] Young age at tibialis anterior tendon transfer (TATT) is a known risk factor for the development of recurrence. […] Underlying neurological conditions may be associated with the recurrence of the clubfoot. […] The steps of correction remain the same even in a child with relapsed clubfoot. […] The ideal interval between two tendon Achilles tenotomies should be 12 weeks as this is the time required for the tendon to reform. […] The treatment of recurrent clubfoot that is not responding to Ponseti serial casting or the foot that has undergone multiple procedures poses multiple challenges such as wound breakdown, wound healing, vascular problems, and incomplete correction. […] Severe, recalcitrant deformities can be treated by using an external fixator.

• #28 :: CIOS :: Clinics in Orthopedic Surgery

  https://ecios.org/DOIx.php?id=10.4055/cios.2014.6.3.245

  Hyperabduction in the final cast and emphasis on brace wearing led to improvement in the short-term and long-term success rates. […] Ponseti suggested that relapses were caused by the same pathology that initiated the deformity rather than being a sign of undercorrection. […] Histological and immunohistochemical findings showed that the posterior and medial ankle ligaments of clubfeet appeared to be the site of the earliest changes. […] Therefore, Ponseti hypothesized that the relapses may be related to retracting fibrosis of the ligaments and musculotendinous units of the posterior and medial ankle. […] A comparative research between the use of the bar-connected FAO and the ankle foot orthosis (AFO) to prevent relapse follow correction of idiopathic clubfoot with the Ponseti method suggested that the bar-connected FAO appeared to be very important in preventing recurrence of clubfeet treated with the Ponseti method and this cannot be achieved with an AFO because 60 to 70 degrees of external rotation, which is accomplished by the FAO, is necessary to stretch the medial soft tissues.

• #29 :: CIOS :: Clinics in Orthopedic Surgery

  https://ecios.org/DOIx.php?id=10.4055/cios.2014.6.3.245

  The medial soft tissues remain stretched out only if the FAO is used after three weeks of casting. […] Therefore, we can presume that when the contractility of all ligaments and tendons of the ankle reaches static equilibrium the deformity does not recur. […] The presence of collagen, vimentin, and myofibroblast-like cells in the thick, tight, and shortened medial and posterior tarsal ligaments seems to play an important role in the pathogenesis and relapse of the clubfoot deformity.

• #30 Etiology and Pathogenesis of Clubfoot and Vertical Talus | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-031-34788-7_1

  Clubfoot and vertical talus are closely related congenital lower limb malformations. While there is evidence that environmental factors and prenatal drug exposures may contribute to their pathogenesis, genetic factors appear to play a significant role. Morphological analysis of tissues from clubfoot patients using a variety of invasive and noninvasive modalities, including muscle biopsy and magnetic resonance imaging, show a spectrum of muscle, vasculature, and nerve abnormalities that provide evidence against a singular etiology for clubfoot. […] Consistent with this, genes involved in early limb development, including PITX1, TBX4, and HOX genes, have now been implicated in some cases of familial clubfoot and vertical talus. Individuals with genetic abnormalities in these transcriptional regulators of early limb development are more likely to have treatment resistant clubfoot and clinical exam abnormalities such as the drop-toe sign or weakness with eversion that are hallmarks of treatment resistance.

• #31 SciELO Brazil – Congenital Clubfoot – Is the Ponseti Method the Definitive Solution? Congenital Clubfoot – Is the Ponseti Method the Definitive Solution?

  https://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-36162021000600683

  Congenital clubfoot is one of the most common deformities at birth. […] An understanding of the pathophysiology of the disease, as well as of the anatomy and local biomechanics and a thorough clinical and radiological evaluation of patients are essential to understanding the limits of the method and choosing the best treatment. […] Knowledge of the pathogenesis of the clubfoot is essential for the prevention, recognition and understanding of recurrence. According to Ponseti et al., recurrences are caused by the same pathology that initiated the deformity and it is a mistake to believe that the recurrent deformity would be the same as the first, which has not completely corrected during treatment. The disease involves the entire posterior and medial region of the leg, ankle, and foot. There is a slight decrease in muscle size and an excess of collagen synthesis with fibrosis and retraction in the medial and posterior tarsal ligaments, in the deep fascia, in the Achilles tendon, and in the posterior tibial tendon.

• #32 Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-023-01559-9

  Newborns with idiopathic talipes equinovarus show calf muscle hypoplasia at birth, suggesting the involvement of genes related to muscle development. […] Filamin B (FLNB) is a protein that binds actin in a dynamic structure. […] Genetic analyses revealed mutations in genes involved in various cellular processes, including proliferation, apoptosis, differentiation, and extracellular matrix formation and remodeling. […] Mutations in genes encoding the ECM proteins COL9A1, COL9A2, COL9A3, COMP and MATN3, as well as the transmembrane glycoprotein involved in matrix organization, SLC26A2, have been associated with clubfoot. […] Mutations in peroxisomal biogenesis (PEX) factors, including PEX26, are also included in the pathogenesis of clubfoot.

Zobacz więcej