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Congenital Foot Deformities
Abstract
This chapter will review some of the more common congenital foot and ankle deformities among children. Many of these deformities have a genetic influence while others may arise secondary to a failure in differentiation in utero. A complete pediatric history and physical exam is key in excluding any neurologic component. Some secondary diagnoses may not be identified at birth and may require monitoring as the child develops.
Metatarsus adductus is common clinical entity with an estimated prevalence of approximately 30%. Multiple radiographic methods exist to evaluate the extent of the deformity, with the Sgarlato and Engel methods most commonly used. Surgical treatment varies, consisting of proximal versus distal metatarsal osteotomies, TMT arthrodesis, and realignment of the lesser rays. Particularly in severe cases, addressing all deformities is critical to obtaining a good outcome.
Background: To our knowledge, there are no reports of the Ponseti method initiated after walking age and with >10 years of follow-up. Our goal was to report the clinical findings and patient-reported outcomes for children with a previously untreated idiopathic clubfoot who were seen when they were between 1 and 5 years old, were treated with the Ponseti method, and had a minimum follow-up of 10 years.
Methods: A retrospective review of medical records was supplemented by a follow-up evaluation of physical findings (alignment and range of motion) and patient-reported outcomes using the Oxford Ankle Foot Questionnaire for Children (OxAFQ-C). The initial treatment was graded as successful if a plantigrade foot was achieved without the need for an extensive soft-tissue release and/or osseous procedure.
Results: We located 145 (91%) of 159 patients (220 clubfeet). The average age at treatment was 3 years (range, 1 to 5 years), and the average duration of follow-up was 11 years (range, 10 to 12 years). The initial scores according to the systems of Pirani et al. and Diméglio et al. averaged 5 and 17, respectively, and an average of 8 casts were required. Surgical treatment, most commonly a percutaneous Achilles tendon release (197 feet; 90%), was required in 96% of the feet. A plantigrade foot was achieved in 95% of the feet. Complete relapse was rare (3%), although residual deformities were common. Patient-reported outcomes were favorable.
Conclusions: A plantigrade foot was achieved in 95% of the feet initially and was maintained in most of the patients, although residual deformities were common. Patient-reported outcomes were satisfactory, and longer-term follow-up with age-appropriate outcome measures will be required to evaluate function in adulthood.
Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.
Background:
Up to 40% of patients with idiopathic clubfoot who are treated with the Ponseti method experience recurrence of deformity. Many of these patients receive surgery (e.g., anterior tibial tendon transfer). An alternative approach for recurrent clubfoot is repeat Ponseti casting. The purpose of this study was to evaluate the outcome of repeat Ponseti casting in the treatment of recurrent clubfoot.
Methods:
Patients with recurrent idiopathic clubfoot who were treated at our hospital, between 2004 and 2012, with repeat serial casting and bracing (the recurrent group) were eligible for inclusion in the study. The recurrent group and a control group of randomly selected patients seen during the same period who had not had recurrence were compared with respect to demographic data, age at the time of treatment, number of casts, subsequent surgical intervention(s), and the Disease-Specific Instrument (DSI) clubfoot scale. Patients were deemed to have a successful outcome if they had a well-corrected foot (defined as dorsiflexion of ≥10°, hindfoot in valgus, and a straight lateral border) at the time of follow-up.
Results:
Of a total of 71 eligible patients with clubfeet, 35 patients participated. At the time of follow-up, success rates were 74% for the recurrent group and 83% for the control group. Dorsiflexion past neutral was significantly higher in the control group than the patient group (20° versus 12°, respectively; p < 0.001). Ninety-five percent of the control subjects had a straight lateral border in comparison with 78% in the recurrent group (p = 0.004). Likewise, 97% of controls had the hindfoot in valgus in comparison with 80% of the recurrent group (p = 0.02). There was a significant difference in the ability to squat (76% in the control group and 43% in the recurrent group; p = 0.03). There was no difference between groups in the total outcome of the DSI.
Conclusions:
Recurrence was seen in 19% (71) of 382 children who were eligible for our study who were typically discharged after the age of 5 years from our clinic, indicating the importance of continued follow-up until after that age. Treatment with casting was successful in many patients and may be a reasonable choice for recurrent idiopathic clubfeet.
Level of evidence:
Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.
Purpose
Congenital vertical talus (CVT) appears as an idiopathic or non-idiopathic deformity. In this study, we analysed the talar axis–first metatarsal base angle (TAMBA) values of idiopathic and non-idiopathic CVT cases treated with the Dobbs method.
Materials and methods
Between January 2007 and July 2012, 20 cases of CVT were treated, starting with a manipulation, casting and a minimally invasive surgical approach. We analysed retrospectively the TAMBA values in idiopathic and non-idiopathic CVT. As a new indicator for the mobility in the talonavicular complex, we used the difference of the TAMBA in neutral position and the TAMBA in plantarflexion. TAMBA measurements of CVT successfully treated with the Dobbs method were compared to TAMBA values of CVT unsuccessfully treated using a minimally invasive approach.
Results
Out of 20 CVT, 14 were successfully treated with the Dobbs method. Of these 14, five feet were non-idiopathic and nine feet were idiopathic. Six feet did not have complete correction following the Dobbs protocol, and were associated with arthrogryposis or caudal regression syndrome. The initial TAMBA in idiopathic feet ranged from 70 to 110° (mean 88°). The TAMBA in non-idiopathic feet ranged from 75 to 128° (mean 105). Feet successfully treated with the Dobbs method had an initial TAMBA between 74 and 110° (mean 87°). Feet unsuccessfully treated with the Dobbs method had an initial TAMBA between 95 and 128° (mean 118°).The measurement difference between the TAMBA in neutral and plantarflexion positions in cases unsuccessfully treated with the Dobbs method were smaller compared to values of feet successfully treated with the Dobbs method. These differences were statistically significant (p < 0.0001).
Conclusion
In our series, the success of the Dobbs method in CVT treatment depended on the flexibility in the talonavicular complex. The TAMBA value and TAMBA difference (TAMBA neutral minus TAMBA plantarflexion) express the flexibility in the talonavicular joint and could be predictive for the success of a minimally invasive treatment. Only in a few cases is the success of the Dobbs method limited. These feet are associated with a TAMBA greater than 120° in neutral position and, particularly, a TAMBA difference smaller than 25°.
The traditional treatment for congenital vertical talus, which involves serial casting and extensive soft-tissue releases, has been associated with severe stiffness and other complications in adolescents and adults. Our hypothesis is that favorable results will be obtained using the Dobbs method of serial manipulation, casting, and limited surgery for vertical talus correction, even in older children and syndromic cases. Therefore, the present study aimed at evaluating the Dobbs method in such cases.
We treated 15 feet of 10 patients (aged from 1 month to 9 years) using manipulation and serial casting or the reverse Ponseti method followed by percutaneous Achilles tenotomy and limited open reduction of the talonavicular joint. All patients were evaluated both clinically and radiologically in a mean follow-up period of 2 years.
After 2 years, all patients had plantigrade and flexible feet with good radiographic correction. The mean talocalcaneal angle before (70.5° ± 10.5) and after (31° ± 5.2) treatment and the talar axis metatarsal base angle before (60° ± 11.4) and after (15° ± 6.7) treatment were significantly improved (P < 0.001).
Recent research has shown that manipulation and serial casting followed by limited surgery (Dobbs method) was successful in treating idiopathic congenital vertical talus. Our results also showed that this method resulted in an excellent outcome in both idiopathic and syndromic congenital vertical talus, even in older children.
Congenital vertical talus is a rare deformity of the foot which can cause substantial pain and disability. Its incidence is approximately 1 in 100,000 live births. It has an association with other neuromuscular abnormalities and identified genetic syndromes in 50% of cases [1-5]. This report presents a case of congenital vertical talus in an infant with Cri du Chat Syndrome (CdCS) which - to our knowledge - has not been previously reported.
A 2 week-old Caucasian, male infant was referred for congenital feet abnormalities and a "clicky" hip at the post-natal baby check. The diagnosis was vertical talus of the right foot and oblique talus of the left foot. Treatment involved serial plaster casts in the "reverse-Ponseti" position until surgery 16 weeks later. The correction was maintained and the feet remain in good position at follow-up. General concern over the infant's development, failing to reach appropriate milestones, prompted paediatric referral. Genetic analysis was finally carried out, giving a diagnosis of Cri du Chat syndrome at two and a half years of age.
In light of other reports of chromosomal anomalies causing congenital vertical talus, the learning point from this case is to investigate early for possible aetiologies, not only spinal/neuromuscular, but also those of a genetic basis.
Unlabelled:
Overlapping fifth toe is thought to be a congenital deformity characterized by the proximal phalanx dorsally subluxating and adducting on the fifth metatarsophalangeal joint. Overlapping fifth toes may present as asymptomatic figments of parental concern, but not infrequently this deformity may be painful and disabling in both the pediatric and adult population. Pediatric overlapping fifth toe often corrects with normal ambulation and physicians only need to intervene if symptomatic deformity persists. Nonoperative optimization with strapping, splinting, and shoe modification would be reasonable first-line treatments. Surgical intervention including osteoclysis, percutaneous tenotomy, capsulotomy, syndacilization, tissue rearrangements, tendon transfers, phalangectomy, and toe amputation are indicated only after optimization of less invasive measures. Underlapping fifth toe (or "curly" toe) deformity is also felt to be congenital. In most cases, underlapping fifth toes are noticed by parents and family members early in infancy. The proximal phalanx in underlapping toes is typically in varus at the metatarsophalangeal joint with flexion. It is not uncommon for a rotational malalignment to be present (supination/pronation) as judged by the nailbeds. Similar to overlapping toes, pediatric underlappers commonly correct with reassurance and benign neglect up to age 6. Intervention is warranted in the setting of persistent pain and footwear difficulty. Accommodative shoes, absorbing cushions, and functional modification are the mainstays of nonoperative management. Operative intervention may consist of osteoclysis, percutaneous flexor tenotomy, capsulotomy, tissue rearrangements, tendon transfers, removal of symptomatic spurs, osteotomies, and amputation. After exhaustive review of the published literature, it is clear that fifth toe deformities (whether overlapping or underlapping) have not been extensively studied. No gold standard approach exists in treatment. Prospective research using larger numbers of patients with detailed outcome metrics are needed. Surgeons should carefully tailor surgical intervention to patient specific pathology.
Levels of evidence:
Expert Opinion, Level V.
Clubfoot affects 1 in 1000 live births, although little is known about its genetic or developmental basis. We recently identified
a missense mutation in the PITX1 bicoid homeodomain transcription factor in a family with a spectrum of lower extremity abnormalities, including clubfoot.
Because the E130K mutation reduced PITX1 activity, we hypothesized that PITX1 haploinsufficiency could also cause clubfoot.
Using copy number analysis, we identified a 241 kb chromosome 5q31 microdeletion involving PITX1 in a patient with isolated
familial clubfoot. The PITX1 deletion segregated with autosomal dominant clubfoot over three generations. To study the role of PITX1 haploinsufficiency
in clubfoot pathogenesis, we began to breed Pitx1 knockout mice. Although Pitx1+/− mice were previously reported to be normal, clubfoot was observed in 20 of 225 Pitx1+/− mice, resulting in an 8.9% penetrance. Clubfoot was unilateral in 16 of the 20 affected Pitx1+/− mice, with the right and left limbs equally affected, in contrast to right-sided predominant hindlimb abnormalities previously
noted with complete loss of Pitx1. Peroneal artery hypoplasia occurred in the clubfoot limb and corresponded spatially with small lateral muscle compartments.
Tibial and fibular bone volumes were also reduced. Skeletal muscle gene expression was significantly reduced in Pitx1−/− E12.5 hindlimb buds compared with the wild-type, suggesting that muscle hypoplasia was due to abnormal early muscle development
and not disuse atrophy. Our morphological data suggest that PITX1 haploinsufficiency may cause a developmental field defect
preferentially affecting the lateral lower leg, a theory that accounts for similar findings in human clubfoot.
Talocalcaneal coalitions can be difficult to detect on plain radiographs, despite obvious clinical findings. The purpose of this study is two-fold: (1) to delineate the benefits of thin-cut computed tomography (CT) and 3D reconstructions and (2) to develop a classification scheme for talocalcaneal coalitions that will provide valuable information for surgical planning.
From 2005 to 2009, 54 feet (35 patients) with a talocalcaneal coalition were evaluated with thin-cut (1 mm) CT, using multi-planar 2D and 3D reconstructions. The talocalcaneal coalitions were classified into five types based on the cartilaginous or bony nature, location, and facet joint orientation.
Bilateral coalitions were found in 22/35 patients. Types I and II were fibrocartilaginous coalitions, which was the most common type, comprising 40.7 and 16.7% of the coalitions, respectively. Of the patients, 14.8% had a shingled Type III coalition, while 11.1% of the feet examined had a complete bony coalition (Type IV). Small peripheral posterior bony coalitions (Type V), which are heretofore not described, were found in 16.7% of feet.
CT scans can provide valuable information regarding the bony or cartilaginous nature of coalitions, as well as the facet orientation, which is helpful in diagnosis and treatment. In this study, the 2D and 3D reconstructions revealed previously unreported peripheral posterior bony coalitions (Type V), as well as coalitions that are in the same plane as the standard CT cuts or Harris view radiographs (Type I). The CT scan also improved the crucial pre-operative planning of the resection in the more complex vertical and combined horizontal and vertical fibrocartilaginous coalitions (Type I and II). Additionally, the complete bony coalitions (Type IV) can be sized accurately, which is helpful in decision-making on the resectability of the coalition.
Non-compliance with foot abduction bracing in children with clubfeet treated with the Ponseti method is the leading risk factor for deformity recurrence. A dynamic foot abduction orthosis is believed to result in improved compliance, fewer skin complications, and fewer recurrences. A case-control trial was conducted to test this hypothesis.
A prospective cohort of children with idiopathic clubfoot using a dynamic brace was compared to a historical control group treated with a standard orthosis. Compliance, skin complications, recurrence, and the need for surgical soft tissue release were compared between groups at equivalent follow-up.
The dynamic and standard brace groups are equivalent in age at the start of treatment (1.9 vs. 2.9 months), number of affected feet (97 vs. 92), and severity (average of four casts required for correction in each group). Fifty-seven children were followed in each group for an average of 2 years. All were corrected initially with the Ponseti method. Compliance is higher using the dynamic brace (47/57, 81%) compared to the standard brace (21/57, 47%) (P < 0.001). The recurrence rate is lower using the dynamic brace (11/57, 19%) compared to the standard brace (22/57, 39%) (P < 0.02). Skin complications are fewer in the dynamic brace (2/57, 3%) compared to the standard brace (11/57, 19%) (P < 0.008). Most importantly, five children using the standard brace underwent posteromedial release within 2 years of treatment, compared to none in the dynamic brace group.
The dynamic foot abduction brace results in improved compliance, fewer recurrences, fewer skin complications, and reduced rates of surgery in idiopathic clubfoot than the traditional brace after non-operative correction with the Ponseti method.
To investigate whether atrophy of the leg muscles present in congenital clubfoot (CCF) is primitive or secondary to treatment of the deformity.
Magnetic resonance imaging (MRI) of both legs was taken in three cohorts of patients with unilateral congenital clubfoot (UCCF): eight untreated newborns (age range 10 days to 2 weeks); eight children who had been treated with the Ponseti method (age range 2-4 years); eight adults whose deformity had been corrected by manipulation and casting according to Ponseti, followed by a limited posterior release performed at age 2-3 months (age range 19-23 years). All of the treated patients wore a brace until 3 years of age. Muscles were measured on transverse MRI scans of both legs taken midway between the articular surface of the knee and the articular surface of the ankle, using a computer program (AutoCAD 2002 LT). The same program was used to measure leg muscles in the histologic cross sections of the legs of two fetuses with UCCF, spontaneously aborted at 13 and 19 weeks of gestation, respectively. Measurements of the whole cross section of the leg (total leg volume: TLV), of the muscular tissue (muscular tissue volume: MTV), and of the adipose tissue (adipose tissue volume: ATV) of the tibia, fibula, and of the other soft tissues (tendons, nerves, and vessels) were taken by using an interactive image analyzer (IAS 2000, Delta System, Milan, Italy).
Marked atrophy of the leg muscles on the clubfoot side was found in both fetuses and untreated newborns, with a percentage ratio of MTV between the normal and the affected leg of 1.3 and 1.5, respectively. Leg muscle atrophy increased with growth, and the percentage ratio of MTV between the normal and the affected leg was, respectively, 1.8 and 2 in treated children and adults. On the other hand, fatty tissue tended to increase relatively from birth to adulthood, but it could not compensate for the progressive muscular atrophy. As a result, the difference in TLV tended to increase from childhood to adulthood.
Our study shows that leg muscular atrophy is a primitive pathological component of CCF which is already present in the early stages of fetal CCF development and in newborns before starting treatment. Muscular atrophy increases with the patient's age, suggesting a mechanism of muscle growth impairment as a possible pathogenic factor of CCF.
Congenital vertical talus is an uncommon foot deformity that is present at birth and results in a rigid flatfoot deformity. Left untreated the deformity can result in pain and disability. Though the exact etiology of vertical talus is unknown, an increasing number of cases have been shown to have a genetic cause. Approximately 50% of all cases of vertical talus are associated with other neuromuscular abnormalities or known genetic syndromes. The remaining 50% of cases were once thought to be idiopathic in nature. However, there is increasing evidence that many of these cases are related to single gene defects. Most patients with vertical talus have been treated with major reconstructive surgeries that are fraught with complications such as wound necrosis, talar necrosis, undercorrection of the deformity, stiffness of the ankle and subtalar joint, and the eventual need for multiple operative procedures. Recently, a new approach to vertical talus that consists of serial casting and minimal surgery has resulted in excellent correction in the short-term. Longer follow-up will be necessary to ensure maintenance of correction with this new technique. A less invasive approach to the correction of vertical talus may provide more favorable long-term outcomes than more extensive surgery as has been shown to be true for clubfoot outcomes.
Ponseti clubfoot treatment has become more popular during the last decade. We reviewed the medical records of 74 consecutive infants (117 club feet) who underwent Ponseti treatment. Minimum followup was 5 years (mean, 6.3 years; range, 5–9 years). We studied age at presentation, previous treatment, the initial severity score of the Pirani scoring system, number of casts, need for Achilles tenotomy or other surgical procedures, and brace use. We measured final ankle motion and parents’ perception of outcome. Late presentation and previous non-Ponseti treatment were associated with lower initial severity score, fewer casts, and less need for tenotomy. Forty-four percent of patients had poor brace use. We observed better brace use (75%) in babies who presented late for treatment. Good brace use predicted less need for extensive surgical procedures. Twenty-four (32%) babies underwent additional surgical procedures other than tenotomy, including 21% who underwent tibialis anterior tendon transfer. At followup, 89% of feet had adequate dorsiflexion (5° or greater). Parents indicated high satisfaction with the treatment results. Ankle motion was not associated with parents’ satisfaction. The Ponseti method is effective, even if treatment starts late or begins after failure at other centers. Brace use influenced the success of treatment.
Level of Evidence: Level IV, therapeutic study. See the Guidelines for Authors for a complete description of levels of evidence.
Unlabelled:
Congenital vascular alterations of the normal adult arterial pattern have been associated with multiple congenital limb deformities including clubfoot and vertical talus. Investigators have observed absence of the anterior tibial artery and dorsalis pedis artery in most patients with clubfoot, and absence of the posterior tibial artery in all patients with vertical talus. We used magnetic resonance angiography to define the lower extremity vascular anatomy of two patients with left-sided vertical talus and right-sided clubfoot and one patient with bilateral vertical talus and cartilage-derived morphogenetic protein-1 (CDMP-1) gene mutation. Of the three patients, one had bilateral posterior tibial artery deficiencies while the other had bilateral anterior tibial artery deficiencies. The third patient with bilateral vertical talus and CDMP-1 mutation had normal arterial structure bilaterally. Though clubfoot and vertical talus have distinctly different clinical phenotypes, the association of each with arterial abnormalities suggests a common etiology during development. The presence of normal arterial structure in our patient with vertical talus and CDMP-1 mutation suggests that other nonvascular etiologies may be responsible for some cases of foot deformities.
Level of evidence:
Level IV, prognostic case series. See the Guidelines for Authors for a complete description of levels of evidence.
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.
Congenital convex pes valgus (congenital vertical talus) is a rare condition. We reviewed ten feet in seven patients who had had surgical correction. All had been operated on by the senior author (JF) and the same surgical technique was used throughout, incorporating transfer of the tibialis anterior to the neck of the talus. The mean age at surgery was 31 months and the mean follow-up was nine years (6 to 14). All patients completed a questionnaire and had clinical, radiological and photographic evaluation performed by an independent examiner.
None had required further surgery. All but one were satisfied with the result, and had no functional limitations. They all wore normal shoes. The mean ankle dorsiflexion was 17° and plantar flexion 21°. The mean arc of subtalar motion was 27°. All radiological parameters measured were within the normal range, although irregularity of the talonavicular joint was common. No avascular necrosis of the body of the talus was seen. We conclude that the medium-term results of this procedure are very satisfactory.
Background
Clubfoot is one of the most common pediatric orthopaedic disorders. While the Ponseti method has revolutionized clubfoot treatment, it is not effective for all patients. When the Ponseti method does not correct the foot, patients are at risk for lifelong disability and may require more-extensive surgery. Questions/Purposes(1) What genetic and morphologic abnormalities contribute to the development of clubfoot? (2) How can this information be used to devise personalized treatment paradigms for patients with clubfoot? Methods
Human gene sequencing, molecular genetic engineering of mouse models of clubfoot, MRI of clubfoot, and development of new treatment methods all have been used by our group to understand the biological basis and improve therapy for this group of disorders. ResultsWe gained new insight into clubfoot pathogenesis from our discovery that mutations in the PITX1-TBX4-HOXC transcriptional pathway cause familial clubfoot and vertical talus in a small number of families, with the unique lower limb expression of these genes providing an explanation for the lack of upper extremity involvement in these disorders. MRI studies revealed corresponding morphologic abnormalities, including hypomorphic muscle, bone, and vasculature, that are not only associated with these gene mutations, but also are biomarkers for treatment-resistant clubfoot. Conclusions
Based on an understanding of the underlying biology, we improved treatment methods for neglected and syndromic clubfoot, developed new treatment for congenital vertical talus based on the principles of the Ponseti method, and designed a new dynamic clubfoot brace to improve strength and compliance.
The exact cause of congenital clubfoot is still unknown. Certain etiological influences, however, have been considered. These include (a) intrauterine mechanical factors, (b) arrest of fetal development, (c) primary germ plasm defect, and (d) neuromuscular defect.10
Background: The nonoperative technique for the treatment of idiopathic congenital talipes equinovarus (clubfoot) described by Ponseti is a popular method, but it requires two to four years of orthotic management. The purpose of this study was to examine the patient characteristics and demographic factors related to the family that are predictive of recurrent foot deformities in patients treated with this method. Methods: The cases of fifty-one consecutive infants with eighty-six idiopathic clubfeet treated with use of the Ponseti method were examined retrospectively. The patient characteristics at the time of presentation, such as the severity of the initial clubfoot deformity, previous treatment, and the age at the initiation of treatment, were examined with use of univariate logistic regression analysis modeling recurrence. Demographic data on the family, including annual income, highest level of education attained by the parents, and marital status, as well as parental reports of compliance with the use of the prescribed orthosis, were studied in relation to the risk of recurrence. Results: The parents of twenty-one patients did not comply with the use of orthotics. Noncompliance was the factor most related to the risk of recurrence, with an odds ratio of 183 (p < 0.00001). Parental educational level (high-school education or less) also was a significant risk factor for recurrence (odds ratio = 10.7, p < 0.03). With the numbers available, no significant relationship was found between gender, race, parental marital status, source of medical insurance, or parental income and the risk of recurrence of the clubfoot deformity. In addition, the severity of the deformity, the age of the patient at the initiation of treatment, and previous treatment were not found to have a significant effect on the risk of recurrence. Conclusion: Noncompliance and the educational level of the parents (high-school education or less) are significant risk factors for the recurrence of clubfoot deformity after correction with the Ponseti method. The identification of patients who are at risk for recurrence may allow intervention to improve the compliance of the parents with regard to the use of orthotics, and, as a result, improve outcome. Level of Evidence: Prognostic study, Level II-1 (retrospective study). See Instructions to Authors for a complete description of levels of evidence.
Background Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans.
Objective To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5′ HOXC genes in four families, segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia.
Methods Probands (N=253) with clubfoot or vertical talus were screened for point mutations and copy number variants using multiplexed direct genomic selection, a pooled BAC targeted capture approach. SNP genotyping included 1178 probands with clubfoot or vertical talus and 1775 controls.
Results The microdeletions share a minimal non-coding region overlap upstream of HOXC13, with variable phenotypes depending upon HOXC13, HOXC12 or the HOTAIR lncRNA inclusion. SNP analysis revealed HOXC11 p.Ser191Phe segregating with clubfoot in a small family and enrichment of HOXC12 p.Asn176Lys in patients with clubfoot or vertical talus (rs189468720, p=0.0057, OR=3.8). Defects in limb morphogenesis include shortened and overlapping toes, as well as peroneus muscle hypoplasia. Finally, HOXC and HOXD gene expression is reduced in fibroblasts from a patient with a 5′ HOXC deletion, consistent with previous studies demonstrating that dosage of lncRNAs alters expression of HOXD genes in trans.
Conclusions Because HOXD10 has been implicated in the aetiology of congenital vertical talus, variation in its expression may contribute to the lower limb phenotypes occurring with 5′ HOXC microdeletions. Identification of 5′ HOXC microdeletions highlights the importance of transcriptional regulators in the aetiology of severe lower limb malformations and will improve their diagnosis and management.
1. Delta phalanx is a rare congenital abnormality not to be confused with other forms of angular deformity of the phalanges.
2. The deformity needs radical treatment by repeated surgery because there is no tendency to spontaneous correction and growth of the phalanx is prevented by the epiphysial deformity.
Congenital vertical talus is a rare foot deformity. If left untreated, it causes significant disability, including pain and functional limitations. Although the etiology of vertical talus is likely heterogeneous, recent evidence strongly supports a genetic cause linking it to genes expressed during early limb development. Traditional management for vertical talus involves extensive surgeries that are associated with significant short- and long-term complications. A minimally invasive approach that relies on serial manipulation and casting to achieve most of the correction has been shown to produce excellent short-term results with regard to clinical and radiographic correction in both isolated and nonisolated cases of vertical talus. Although long-term studies are needed, achieving correction without extensive surgery may lead to more flexible and functional feet, much as Ponseti method has done for clubfeet.
Copyright 2015 by the American Academy of Orthopaedic Surgeons.
Background:
The most common historical treatment method for congenital vertical talus is extensive soft-tissue release surgery. A minimally invasive treatment approach that relies primarily on serial cast correction was introduced almost ten years ago, with promising early results. The purpose of this study was to assess the long-term outcome of patients with congenital vertical talus managed with the minimally invasive technique and compare them with a cohort treated with extensive soft-tissue release surgery.
Methods:
The records of twenty-seven consecutive patients with vertical talus (forty-two feet) were retrospectively reviewed at a mean of seven years (range, five to 11.3 years) after initial correction was achieved. The minimally invasive method was used to treat sixteen patients (twenty-four feet), and extensive soft-tissue release surgery was used to treat eleven patients (eighteen feet). Patient demographics, ankle range of motion, the PODCI (Pediatric Outcomes Data Collection Instrument) questionnaire, and radiographic measurements were analyzed.
Results:
At the latest follow-up, the mean range of motion of patients treated with the minimally invasive method was 42.4° compared with 12.7° for patients treated with extensive surgery (p < 0.0001). The PODCI normative pain and global function scores were superior in the minimally invasive treatment group compared with the extensive soft-tissue release group. Greater correction of hindfoot valgus (anteroposterior talar axis-first metatarsal base angle) was achieved in the minimally invasive treatment group compared with the extensive surgery group (40.1° versus 27.9°, p = 0.03), although all other radiographic values were similar between the two groups (p > 0.1 for all). Subgroup analysis of patients with isolated vertical talus also showed superior range of motion and PODCI normative global function scores in the minimally invasive group.
Conclusions:
The minimally invasive treatment method for vertical talus resulted in better long-term ankle range of motion and pain scores compared with extensive soft-tissue release surgery. Longer-term studies are necessary to determine whether the improved outcomes are maintained into adulthood and whether the superior outcome is related to reduced scarring.
Although epidemiologic studies of some birth defects have suggested a gene-smoking interaction, the possibility of this interaction in clubfoot has not been examined. The authors analyzed risk factors among 346 infants with isolated clubfoot and 3,029 infants without defects from the Atlanta Birth Defects Case-Control Study. All infants were born during 1968–1980, and mothers were interviewed in 1982–1983. The authors examined the family history-smoking interaction as an indication of a gene-environment interaction. They defined “smoking” as smoking any time during the first 3 months of pregnancy and “family history” as having a first-degree relative with clubfoot. Conditional logistic regression (matching variables: race, birth hospital, and birth period) was used to obtain effect estimates. The adjusted odds ratios were 1.34 (95% confidence interval (CI): 1.04, 1.72) for smoking only, 6.52 (95% CI: 2.95, 14.41) for family history only, and 20.30 (95% CI: 7.90, 52.17) for a joint exposure of smoking and family history. The effect estimate for the joint exposure was higher than would be expected under either an additive or a multiplicative model of interaction and showed a statistically significant departure from additivity. This study confirms the importance of familial factors and smoking in the etiology of clubfoot and identifies a potentially important interaction. Am J Epidemiol 2000;152:658–65.
1. The family history of, and associated congenital abnormalities in, patients with talipes equinovarus, talipes calcaneo-valgus and metatarsus varus living in Devonshire has been studied.
2. The chances of any individual having one of these deformities is approximately one per 1,000 in each case.
3. If one child in a family has the deformity, the chances of a second having it are one in thirty-five for talipes equinovarus and one in twenty for talipes calcaneo-valgus and metatarsus varus.
4. The male relatives of the female patients with talipes equinovarus are at particular risk.
5. It is suggested that the cause of club foot is partly genetic and partly environmental, from a factor acting on the foetus in the uterus.
6. The classification of associated congenital abnormalities leads to the suggestion that the genetic factor in talipes equinovarus and talipes calcaneo-valgus relates to defective formation of connective tissue.
Longitudial epiphyseal bracket (LEB) is a rare ossification anomaly in which an epiphysis brackets the diaphysis of a phalanx, metacarpal, or metatarsal. This abnormal epiphysis tethers longitudinal growth, resulting in a shortened and oval-shaped bone. Four patients with five LEBs were treated by central physiolysis and followed for a mean of 6 years. The patients had significant hallux varus deformity. Three patients had duplicated great toes, and two had tibia hemimelia significant enough to require epiphysiodesis as they neared adolescence. Resection of the LEB allowed the proximal and distal epiphysis to resume untethered growth. Silastic or methyl methacrylate was placed over the resected physis to prevent bony rebridging. The associated hallux varus deformity was corrected by capsulorrhaphy and K-wire fixation. In all patients, the metatarsal resumed longitudinal growth and correction of the hallux varus was maintained.
C sign is used to alert the physician of the possible presence of talocalcaneal coalition (TCC), so that advanced imaging can be ordered. The purpose of this study was to know the prevalence of the C sign among patients with TCC and its relationship to the presence of a TCC or to hindfoot alignment.
Retrospective reviews of the presence of C sign in radiographs of 88 feet with TCC (proved by computed tomography scan or surgical findings) and 260 flexible flatfeet were conducted. C sign was classified as complete and interrupted (types A, B, and C). The interobserver variability of the C sign was studied. Seven radiographic parameters were measured to analyze the relationship of these measurements with the presence or absence of the C sign.
C sign was present in 68 feet (77%) with TCC: 14.5% complete and 62.5% interrupted (26% type A, 19.5% type B, and 17% type C). C sign was present in 116 flatfeet (45%), all of them interrupted (0.4% type A, 5.5% type B, and 39% type C). The talo-first metatarsal angle, the talohorizontal angle, the calcaneal pitch, the calcaneo-fifth metatarsal angle, and the naviculocuboid overlap presented a more pathologic value when a C sign was present. The κ-value for the presence of a C sign was 0.663.
The so-called true C sign (complete or interrupted type A) indicates the presence of a TCC and it is not related to flatfoot deformity. However, it is only present in 41% of the cases. The interrupted C sign is much more likely to be related to flatfoot deformity than to the presence of a TCC, specifically when a type C is found.
Diagnostic Study level I.
Although the Ponseti method is accepted as the best choice for treatment of clubfoot, the treatment protocol is labor intensive and requires strict attention to details. Deviations in strict use of this method are likely responsible for the variations among centers in reported success rates.
We wished to determine (1) to what degree the Ponseti method was followed in terms of manipulation, casting, and percutaneous Achilles tenotomy, (2) whether there was variation in the bracing type and protocol used for relapse prevention, and (3) if the same criteria were used to diagnose and manage clubfoot relapse.
We conducted a systematic review of MEDLINE, EMBASE(TM), and the Cochrane Library. Studies were summarized according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses Statement. Five hundred ninety-one records were identified with 409 remaining after deduplication, in which 278 irrelevant studies and 22 review articles were excluded. Of the remaining 109 papers, 19 met our inclusion criteria. All 19 articles were therapeutic studies of the Ponseti method.
The details of manipulation, casting, or percutaneous Achilles tenotomy of the Ponseti method were poorly described in 11 studies, whereas the main principles were not followed in three studies. In three studies, the brace type deviated significantly from that recommended, whereas in another three studies the bracing protocol in terms of hours of recommended use was not followed. Furthermore no unified criteria were used for judgment of compliance with brace use. The indication for recognition and management of relapse varied among studies and was different from the original description of the Ponseti method.
We found that the observed clinically important variation may have been the result of deviations from the details regarding manipulation, casting, percutaneous Achilles tenotomy, use of the bar-connected brace, and indication for relapse recognition and management recommended for the classic Ponseti approach to clubfoot management. We strongly recommend that clinicians follow the Ponseti method as it initially was described without deviation to optimize treatment outcomes.
In den letzten 10 Jahren wurden die umfangreichen Operationsverfahren zur Korrektur von Fußdeformitäten im Säuglingsalter von gipsredressierenden minimal-invasiven Techniken abgelöst. Die Ponseti-Methode wurde das am meisten angewandte Therapieverfahren zur Behandlung des kongenitalen Klumpfußes. Die Frühresultate brachten vielversprechende und überzeugende Ergebnisse. Die mittelfristigen Ergebnisse zeigen die Notwendigkeit von Zweiteingriffen auf. Rezidiveingriffe sind in 11–32 % der Fälle in den ersten Lebensjahren, abhängig von der Tragedauer der Fußabduktionsschiene, notwendig. Der Tibialis-anterior-Transfer ist die operative Maßnahme, welche bei der Rezidivkorrektur im Vordergrund steht und muss als ein elementarer Bestandteil der Ponseti-Methode angesehen werden. Primärkorrektur, Rezidivprophylaxe und -konzept gehören im Ponseti-Konzept zusammen und können nicht einzeln betrachtet werden.
Die Methode nach Dobbs stellt ein neues Konzept zur Behandlung des Talus verticalis dar. Sie bietet eine gute Therapieoption, v. a. für den idiopathischen Talus verticalis. Beim nichtidiopathischen sind jedoch weiterhin auch offene Repositionen des Talonavikular- und des Kalkaneokuboidgelenks notwendig.
Surgical management of the pediatric forefoot often brings challenges to the foot and ankle surgeon. It requires a thorough understanding of the pathologic abnormality and underlying causes involved, which include the contributing genetic conditions. Albeit most of the deformities carry a rare level of incidence, they do however have a significant level of psychological component and stress on the pediatric patient. The goals of managing those pathologic abnormalities are ultimately to improve function while achieving a cosmetically acceptable outcome. The common forefoot pathologic abnormalities in the pediatric population are reviewed with an added focus toward management of forefoot trauma.
The long-awaited second edition of Drennan's The Child's Foot and Ankle is a beautiful, well-laid-out review of virtually everything a pediatric orthopedic surgeon would want to know about the foot and ankle in children. A 20-year wait has resulted in a contemporary edition wisely enhanced by new chapters and reshaped topics, such as the nonoperative treatment of congenital clubfoot with the Ponseti technique, metatarsus adductus, and metatarsus varus. The inclusion of the Ponseti technique is a welcome, needed addition, and the technique is copiously illustrated.
Surgical resection of persistently painful talocalcaneal tarsal coalitions may not reliably relieve symptoms in patients with large coalitions associated with excessive hindfoot valgus deformity and subtalar posterior facet narrowing. Since 1991, calcaneal lengthening osteotomy, with or without coalition resection, has been used at our institution to relieve symptoms and to preserve motion at the talonavicular and calcaneocuboid joints.
We retrospectively reviewed the records for eight patients with thirteen painful talocalcaneal tarsal coalitions who had undergone a calcaneal lengthening osteotomy for deformity correction with or without coalition resection between 1991 and 2005. Preoperative and postoperative clinical, radiographic, and computed tomographic records were reviewed. The duration of clinical follow-up ranged from two to fifteen years.
Calcaneal lengthening osteotomy fully corrected the valgus deformity and provided short-to-intermediate term pain relief for the five patients (nine feet) in whom the talocalcaneal tarsal coalition was unresectable. The patient with resectable coalitions but excessive valgus deformities underwent calcaneal lengthening osteotomies along with coalition resections and had excellent deformity correction and pain relief in both feet. One of the two patients who underwent calcaneal lengthening osteotomy years after coalition resection had excellent correction and pain relief. The other patient had a coincident calcaneonavicular coalition and severe degenerative arthritis in the talonavicular joint. He underwent concurrent arthrodesis of the talonavicular joint and, although he had excellent deformity correction, had persistent pain. All feet underwent concurrent gastrocnemius or Achilles tendon lengthening.
It is generally accepted that resection is the treatment of choice for an intractably painful small talocalcaneal tarsal coalition that is associated with a wide, healthy posterior facet and minimal valgus deformity of the hindfoot. Although triple arthrodesis has been recommended for those who do not meet all three criteria, the present study suggests that an algorithmic treatment approach is justified. Treatment of the valgus deformity appears to be as important as that of the coalition. Calcaneal lengthening osteotomy with gastrocnemius or Achilles tendon lengthening is effective for correcting deformity and relieving pain in rigid flatfeet, just as it is in flexible flatfeet.
Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.
Talipes equinovarus is one of the most common congenital musculoskeletal anomalies and has a worldwide incidence of 1 in 1000 births. A genetic predisposition to talipes equinovarus is evidenced by the high concordance rate in twin studies and the increased risk to first-degree relatives. Despite the frequency of isolated talipes equinovarus and the strong evidence of a genetic basis for the disorder, few causative genes have been identified. To identify rare and/or recurrent copy number variants, we performed a genome-wide screen for deletions and duplications in 413 isolated talipes equinovarus patients using the Affymetrix 6.0 array. Segregation analysis within families and gene expression in mouse E12.5 limb buds were used to determine the significance of copy number variants. We identified 74 rare, gene-containing copy number variants that were present in talipes equinovarus probands and not present in 759 controls or in the Database of Genomic Variants. The overall frequency of copy number variants was similar between talipes equinovarus patients compared with controls. Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2. Although our results do not support a major role for recurrent copy number variations in the etiology of isolated talipes equinovarus, they do suggest a role for genes involved in early embryonic patterning in some families that can now be tested with large-scale sequencing methods.European Journal of Human Genetics advance online publication, 15 August 2012; doi:10.1038/ejhg.2012.177.
Traditional extensive soft-tissue release for the treatment of congenital vertical talus is associated with a myriad of complications. A minimally invasive approach has recently been introduced with good short-term results in patients with isolated vertical talus. The purpose of the present study was to evaluate the effectiveness of this approach for the treatment of rigid vertical talus associated with neuromuscular and/or genetic syndromes.
Fifteen consecutive patients (twenty-five feet) with non-isolated congenital vertical talus were retrospectively reviewed at a minimum of two years following treatment with serial casting followed by limited surgery. The surgery consisted of percutaneous Achilles tenotomy in all feet and either pin fixation of the talonavicular joint through a small medial incision to ensure joint reduction and accurate pin placement (five feet) or selective capsulotomies of the talonavicular joint and the anterior aspect of the subtalar joint (twenty feet). Patients were evaluated clinically and radiographically at the time of presentation, immediately postoperatively, and at the time of the latest follow-up. Radiographic data at the time of the latest follow-up were compared with age-matched normative values.
Initial correction was obtained in all cases. The mean number of casts required was five. Mean ankle dorsiflexion was 22° and mean plantar flexion was 25° at the time of the latest follow-up. Recurrence was noted in three patients (five feet), all of whom had had initial subluxation of the calcaneocuboid joint. All radiographic parameters measured at the time of the latest follow-up had improved significantly (p < 0.0001) compared with the values before treatment, and the mean values of the measured angles did not differ significantly from age-matched normal values.
Serial manipulation and casting followed by limited surgery, consisting of percutaneous tenotomy of the Achilles tendon and a small medial incision to either palpate the talonavicular joint or perform capsulotomies of the talonavicular joint and the anterior aspect of the subtalar joint to ensure accurate reduction and pin fixation, result in excellent short-term correction of the deformity while preserving subtalar and ankle motion in patients with rigid congenital vertical talus associated with neuromuscular and/or genetic syndromes.
Congenital vertical talus, also known as congenital convex pes valgus, is a complex, rare, foot deformity that is resistant to conservative treatment. We report a case of bilateral congenital vertical talus with severe lower extremity external rotational deformity that was treated by means of a method of serial manipulations and casts. Although the initial manipulation and casting before surgical treatment is the current concept of idiopathic congenital vertical talus, a good result can be obtained by a well-organized conservative treatment with the help of patient compliance, so routine surgical release of the Achilles tendon may not be necessary in all cases.
The purpose of this study was to review outcomes of patients treated for symptomatic talocalcaneal coalition with resection and interposition of fat graft.
A retrospective review was performed on all patients who underwent surgical treatment for symptomatic talocalcaneal coalition over a 13-year period. Ninety-three feet were treated with excision and fat graft interposition by 6 surgeons. All patients underwent a chart review. Patient's outcome was assessed at the last follow-up using the American Orthopaedic Foot and Ankle Society Hindfoot scale. Postoperative computed tomography scans were available for 20 feet.
Forty-nine feet had follow-up of at least 12 months and had a score obtained through the American Orthopaedic Foot and Ankle Society Hindfoot scale. At an average of 42.6 months of follow-up, the average score obtained was 90/100 (excellent). The postoperative computed tomography scans demonstrated 1 recurrence (3%), which was treated with repeat excision. An additional patient was reoperated for failure to excise the coalition completely. Eleven patients (34%) underwent a subsequent surgery to correct the alignment of the foot. To the best of our knowledge, none of the patients excluded because of short follow-up had repeat surgery or recurrence.
A symptomatic talocalcaneal coalition can be treated with excision and fat graft interposition, and achieve good to excellent results in 85% of patients. Patients should be counseled that a subset may require further surgery to correct malalignment.
Level IV-case series.
Macrodactyly of the foot is a rare disorder characterized by enlargement of the soft tissue and osseous elements of the foot that impedes the development of normal function and gait. Despite the morbidity associated with this condition, many surgeons are reluctant to perform surgical reduction. In the present report, we describe 3 pediatric patients with pedal macrodactyly, who underwent surgical correction consisting of amputation of the most enlarged ray, reduction of the adjacent rays, and ray transposition, combined with debulking of soft tissues. All 3 patients subsequently developed a normal gait and were able to wear normal, or minimally adjusted, shoes. We advocate early surgical treatment of macrodactyly of the foot to enhance the development of normal function and gait.
The widely accepted treatment of vertical talus after casting is correction by extensive surgery. Dobbs described a new method for the treatment of vertical talus by casting and minimally invasive surgery. The purpose of the present study was to evaluate the efficacy of this new method.
Between 11/06 and 11/09 we treated 7 patients with 12 vertical tali. Treatment followed the protocol of Dobbs. The initiation of treatment, number of casts, surgery, as well as clinical and radiological results were documented. To evaluate the radiological result we used the Hamanishi score.
From the beginning all feet could be treated successfully with the Dobbs method. According to the Hamanishi classification we have four excellent and five good results. Two feet had a relapse with subluxation or dislocation of the talonavicular joint.
Treatment of vertical talus with the Dobbs method is successful. Extensive surgery could be reduced. We recommend the method as primary treatment for vertical talus.
Congenital vertical talus is a fixed dorsal dislocation of the talonavicular joint and fixed equinus contracture of the hindfoot, causing a rigid deformity recognizable at birth. The etiology and epidemiology of this condition are largely unknown, but some evidence suggests it relates to aberrations of skeletal muscle. Identifying the tissue abnormalities and genetic causes responsible for vertical talus has the potential to lead to improved treatment and preventive strategies.
We therefore (1) determined whether skeletal muscle abnormalities are present in patients with vertical talus and (2) identified associated congenital anomalies and genetic abnormalities in these patients.
We identified associated congenital anomalies and genetic abnormalities present in 61 patients affected with vertical talus. We obtained abductor hallucis muscle biopsy specimens from the affected limbs of 11 of the 61 patients and compared the histopathologic characteristics with those of age-matched control subjects.
All muscle biopsy specimens (n = 11) had abnormalities compared with those from control subjects including combinations of abnormal variation in muscle fiber size (n = 7), type I muscle fiber smallness (n = 6), and abnormal fiber type predominance (n = 5). Isolated vertical talus occurred in 23 of the 61 patients (38%), whereas the remaining 38 patients had associated nervous system, musculoskeletal system, and/or genetic and genomic abnormalities. Ten of the 61 patients (16%) had vertical talus in one foot and clubfoot in the other. Chromosomal abnormalities, all complete or partial trisomies, were identified in three patients with vertical talus who had additional congenital abnormalities.
Vertical talus is a heterogeneous birth defect resulting from many diverse etiologies. Abnormal skeletal muscle biopsies are common in patients with vertical talus although it is unclear whether this is primary or secondary to the joint deformity. Associated anomalies are present in 62% of all cases.
Nonoperative methods for clubfoot treatment include the Ponseti technique and French functional method. The purpose of this study was to compare the gait of children presenting with moderate clubfeet who were treated successfully with these techniques. We hypothesized: (1) no difference in gait parameters of moderate clubfeet treated with either of these nonsurgical techniques and (2) gait parameters after treatment for less severe feet would more closely approximate normal gait.
Patients whose clubfeet were initially scored between 6 and <10 on the Dimeglio scale underwent gait analysis at the age of 2 years. Kinematic evaluation of the ankle was analyzed and kinematic data were classified as abnormal if more than 1 standard deviation from age-matched normal data. Spearman nonparametric correlation coefficients were used to analyze combined data of moderate to very severe clubfeet to determine any relationship between initial severity and gait outcomes.
Gait analysis was performed on 33 patients with 40 moderate clubfeet [17 Ponseti, 23 French physical therapy (PT) feet]. Three Ponseti feet were excluded because they had undergone surgery. No statistically significant differences existed in ankle equinus, dorsiflexion, or push-off plantarflexion between the groups. Swing phase foot drop was present in 6 PT feet (26%) compared with zero Ponseti feet (P=0.026). Normal kinematic ankle motion was present more often in the Ponseti group (82%) than PT (48%) (P=0.027). Regardless of treatment, residual intoeing was seen in one-third of children with moderate clubfeet. The combined group of moderate and severe clubfeet showed no correlation between initial Dimeglio score and presence of normal ankle motion or normal gait at 2 years-of-age.
Normal ankle motion was documented more frequently in the Ponseti feet compared with the PT group. Recent implementation of early tendo-achilles release in PT feet may change these outcomes in the future. In conclusion, gait in children with moderate clubfeet is similar to those in patients with severe clubfeet, but the likelihood of surgery may be less.
Therapeutic level II.
The surgery for idiopathic congenital vertical talus (CVT) can lead to stiffness, wound complications and under or over correction. There are sporadic literature on costing with mixed results. We describe our early experience of reverse ponseti technique.
Four cases (four feet) of idiopathic congenital vertical talus (CVT) which presented one month after birth were treated by serial manipulation and casting, tendoachilles tenotomy and percutaneous pinning of talonavicular joint. An average of 5.2 (range - four to six) plaster cast applications were required to correct the forefoot deformity. Once the talus and navicular were aligned based on the radiographic talus-first metatarsal axis, percutaneous fixation of the talo-navicular joint with a Kirschner wire, and percutaneous tendoachilles tenotomy under anesthesia was performed following which a cast was applied with the foot in slight dorsiflexion.
The mean follow-up period for the four cases was 8.5 months (6-12 months). At the end of the treatment all feet were supple and plantigrade but still using ankle foot orthosis (AFO). The mean talocalcaneal angle was 70 degrees before treatment and this reduced to 31 degrees after casting. The mean talar axis first metatarsal base angle (TAMBA) angle was 60 degrees before casting and this improved to 10.5 degrees.
Although our follow-up period is small, we would recommend early casting for idiopathic CVT along the same lines as the Ponseti technique for clubfoot except that the forces applied are in reverse direction. This early casting method can prevent extensive surgery in the future, however, a close vigil is required to detect any early relapse.
Current methods of treating congenital clubfeet provide high rates of functional outcomes. Despite the clinical outcomes, radiographic assessment suggests residual equinus deformity of the hindfoot. It is unclear whether these deformities result in abnormal foot-floor pressures and whether they correlate with clinical outcome. We evaluated 28 feet in 20 patients following Ponseti treatment for clubfoot by clinical and pedobarographic examination a mean of 33 months after removal of the last cast. The data were compared to age- and weight-matched normal subjects and to the unaffected foot in the unilaterally affected patients. Despite ankle range of motion of 30° and a physiologic hindfoot valgus alignment in 19 cases, pedobarography suggested differences in maximum force, impulse, contact area, and peak pressure compared to normal subjects. Compared to the unaffected foot the only difference was reduced peak pressure over the medial hindfoot and forefoot with increased pressure over the lateral midfoot. Similar to radiographic abnormalities in studies on treated clubfeet with good functional outcome, pedobarographic analyses show differences compared to a control group. The value of pedobarographic analysis for predicting successful treatment of congenital clubfoot is questionable since it does not correlate with the clinical outcome in patients treated with the Ponseti method.
Level of Evidence: Level IV, diagnostic study. See the Guidelines for Authors for a complete description of levels of evidence.
To assess, in the newborn, the efficacy of a standard taping treatment used in children for two selected congenital toe abnormalities (curly/varus/underlapping toes and overlapping toes), and compare the outcome with the available world literature.
All children referred by their family physician between January 2004 and January 2006 were included. The newborns were reviewed by one author (WGS) within 10 days of birth, assessed for severity, and the toes were taped in a standard manner if the abnormalities met the study criteria. After one and two months, the same author reviewed the children, and retaped the toes. The children's toes were photographed before the taping and then after three months when the tape was removed permanently. After six months, the children, with their pictures, were sent to a second author (JTS), and were scored for the grade of severity and improvement using standard criteria.
The world literature and standard textbooks indicate a 25% spontaneous improvement of these abnormalities. The recommendation is for surgical correction at a later date because intervention with taping has not shown success after the newborn period. No prior studies have been undertaken in the newborn. In the present study of 84 toes, the abnormality occurred in 2.8% of newborns, and 94% of the toes were improved or cured with no complications related to the technique.
A simple, office-friendly technique of taping underlapping and overlapping toes in the newborn proved successful in 94% of the toes.
A genetic study of 50 Maori kindreds suggests club foot to be inherited as a polygenic trait as in Caucasians. A higher incidence of right foot involvement was present in the Maori. Empiric risk data indicated that if the index patient was female, the chance of subsequent children being affected was four percent. If the index patient was male, the chance of subsequent children being affected was nine percent, and if parent and child were affected, the chance of subsequent children being affected was 30 percent. These risks are much higher than found in Caucasians.
From 1910 through 1975, forty-four patients with subungual exostoses were seen at the Mayo Clinic. Thirty-four of them had the exostosis on the great toe. Forty-three of the patients were treated by local excision and one was treated by amputation of the hallux. Five patients had local recurrence. None of the tumors underwent malignant change. Histologically, the tumors consisted of a proliferating fibrocartilaginous gap that merged into mature trabecular bone at its base. The growth in the cap was so active that is sometimes mimicked sarcoma, but no true anaplasia was seen. The subungual exostoses were uniformly benign, and local excision was the treatment of choice.
This paper reports on a prospective study undertaken to determine the natural history of untreated idiopathic hooked forefoot. The progress of 130 affected feet in eighty-three children was followed for an average of seven years. At review 86% of the feet were normal or only mildly deformed and all were fully mobile; 10% were still moderately deformed but were asymptomatic; 4% remained deformed and stiff. It was not possible to detect these resistant cases before the age of three years, but the low failure rate would seem to justify a policy of expectant treatment.
In talipes equino-varus the diminished bulk of the calf muscle suggests a neuromuscular defect. Accordingly, biopsies were taken from the postero-medial and peroneal muscle groups, and occasionally from abductor hallucis, in sixty patients mostly under the age of five years; 111 were studied histochemically and histologically, and a further fifty-three by electron-microscopy. Histochemical anomalies were revealed in ninety-two specimens; the muscle fibres in the other nineteen varied in size but were abnormal at the ultramicroscopic level, as were all specimens examined with the electron microscope. Evidence of neurogenic disease was seen in most instances and was more obvious in the older patients. The pattern of abnormality was similar in both muscle groups. It is thought that shortening of the postero-medial muscles may result from a small increase of fibrosis due to minor innervation changes occurring in intra-uterine life. There is evidence that immobilisation, stretching or relaxation of muscles does not account for the anomalies observed. This study of the extrinsic muscles in talipes equino-varus indicates a dominant neurogenic factor in its causation.
43 children treated by flexor-to-extensor transfer for a total of 130 curly toes were retrospectively reviewed after a mean period of 8 years. According to an objective scoring system, 37 patients had a satisfactory result and 6 patients had a poor result of one or more toes. We now recommend that children with mild to moderate curly toes should be observed until the age of 6 years, by which time the majority will have had spontaneous correction. The remaining patients should be operated on at that stage because children operated on later had poor results. Attention should be paid to the surgical technique because the long flexor tendons are often bipartite.