Bilateral Talipes Research Articles

Plantar Pressure Distribution of Right and Left Foot in Bilateral Clubfoot Treated by Ponseti Method: A Correlation Analysis.

BackgroundCongenital clubfoot is a common pediatric orthopedic deformity that can be corrected by Ponseti method, and pedobarographic analysis has been used to assess the outcomes. However, the relationship between the plantar pressure distribution of the right and left foot in children with bilateral clubfoot has not been studied. In this study, the pedobarographic data of patients with bilateral clubfoot who were treated by the Ponseti method were reviewed, and a correlation analysis was conducted to clarify the relationship between the right and left foot.Material/MethodsA retrospective cross-sectional study of children with bilateral clubfoot who were treated by the Ponseti method in infancy was performed, in which all the patients were available for clinical evaluation, and pedobarographic analysis was conducted on each patient after treatment. The Pearson’s correlation coefficient (r) were calculated for all the measurements of the left and right foot.ResultsA total of 20 children (mean age 6.9±1.07 years, range 4–8 years) with bilateral clubfoot who were treated by the Ponseti method were included. The Dimeglio and Pirani scores before and after treatment between the right and left foot were significantly correlated. All the pedobarographic measurements between the left and right foot were correlated, indicating different degrees of positive correlation.ConclusionsThe plantar pressure measurements between the 2 feet in patients with bilateral clubfoot were highly correlated before treatment, and a correlation was also observed after those patients were treated by the Ponseti method. We should take these correlations into consideration during study design and analysis of clubfoot cases.

Quantification of differences in lower-limb appearance between idiopathic clubfeet treated by ponseti casting method versus normal feet in young children

Despite excellent functional correction of club foot, the appearance of the treated lower-limb differs morphologically from normal lower-limbs which has been described qualitatively in the past. The purpose of this study is to quantify the lower-limb appearance between idiopathic ponseti-treated clubfeet versus normal feet in terms of foot length, calf girth and internal tibial torsion in a group of young children. Materials and methods: 49 club foot patients (29 unilateral, and 20 bilateral) below the age of 12 months were treated using the Ponseti casting method. When patients reached walking age (average 14 months), the evaluation was done using the Pirani score. Upon a score of 0 (indicating full correction), the lower-limb appearance was defined by foot length, calf girth, and internal tibial torsion measurements. Results: Of the 29 patients with unilateral clubfoot (age: 14 ± 3 months), 86% had smaller foot length (11.9 ± 0.7 cm, p < 0.05), 69% had smaller calf girth (17.1 ± 1.7 cm, p < 0.05) and 79% had larger internal tibial torsion (16.1° ± 3.7°, p < 0.001) in comparison to normal lower-limbs (n=19). Of the 20 patients with bilateral clubfeet (age: 14 ± 3 months), 100% had smaller foot length (12.0 ± 0.7 cm, p < 0.05), 60% had smaller calf girth (17.1 ± 1.4 cm, p < 0.05) and 74% had larger internal tibial torsion (15.3° ± 3.9°, p < 0.001) in comparison to age-matched normal lower-limbs (n=19). However, when comparing all treated lower-limbs (n=49) to normal lower-limbs (n=20), 82% had significant difference in all these parameters. Conclusion: Children with Idiopathic Club Feet treated with Ponseti exhibit significant quantitative differences in terms of smaller foot length, smaller calf-girth and larger internal rotation as compared to normal individuals. Prior counselling of parents regarding these differences in unilateral cases is recommended.

Use of PROMIS in Assessment of Children With Ponseti-treated Idiopathic Clubfoot: Better Scores With Greater Than 3 Years of Brace Use.

Patient-Reported Outcomes Measurement Information System (PROMIS) is a well-validated tool used to measure health-related quality of life for children and adolescents with chronic medical conditions. The current study evaluates PROMIS scores in 3 domains for children with Ponseti-treated idiopathic clubfoot. This is a retrospective cohort study of 77 children, ages 5 to 16 years, treated by Ponseti protocol for idiopathic clubfoot. Three pediatric PROMIS domains (Mobility, Pain Interference, and Peer Relationships) were administered between April 2017 and June 2018. One-way analysis of variance with Bonferroni post hoc and independent sample t tests were performed to explore differences across PROMIS domain scores by sex, age, initial Dimeglio score, laterality, bracing duration, and whether the child underwent tibialis anterior transfer. In the self-reported group (ages 8 to 16), mean T-scores for all 3 domains in both unilaterally and bilaterally affected groups were within the normal range, with respect to the general reference pediatric population. However, children with unilateral clubfoot had a significantly higher mean Mobility T-score (54.77) than children with bilateral clubfoot (47.81, P=0.005). Children with unilateral clubfoot also had significantly lower mean pain scores (39.16) than their bilateral counterparts (46.56, P=0.005). Children who had braced >36 months had a significantly higher mean Mobility T-score (53.68) than children who braced ≤36 months (46.28, P=0.004).In the proxy group (ages 5 to 7), mean T-scores for all 3 domains in both laterality groups were within the normal range, with respect to the reference population. Children who had braced >36 months had a significantly higher mean Mobility T-score (52.75 vs. 49.15, P=0.014) and lower Pain Interference score (43.04 vs. 49.15, P=0.020) than children who braced ≤36 months. Children treated by Ponseti protocol for idiopathic clubfoot yielded PROMIS scores for Mobility, Pain Interference, and Peer Relationships domains similar to the reference population. Bracing duration >36 months and unilaterality were associated with less mobility impairment than their counterparts. These findings may help guide parent recommendations. Level III.

Collaboration between Paediatrician and Orthopaedician in Management of Congenitial Talipes Equino Varus by Ponseti Method

Introduction: Congenital Talipes Equino Varus (CTEV) or Clubfoot is one of the commonest orthopaedic problems observed in infants. Deformity involving in utero malalignment of calcaneo-talar-navicular complex of the foot is known as CTEV. Due to lack of treatment capacity and less knowledge about “Appearance, Pulse, Grimace, Activity, and Respiration.” (APGAR) Score in low income countries, CTEV end up with neglected clubfoot deformity (untreated children &gt;2 years). About 1-2/1000 live births is the estimated incidence of idiopathic clubfoot. Aim: To assess the clinical profile and efficacy of Ponseti technique in the management and treatment of CTEV by Paediatrician and Orthopaedician collaboration. Materials and Methods: The observational study was conducted at AdiChunchanagiri Institute of Medical Sciences (AIMS). The data was recorded in a standard predesigned proforma which contained all details of patients like name, age, sex, parent details, address, family history, pregnancy and delivery details of mother, any prior treatment taken for clubfoot and examination details of spine, hips, upper and lower limbs with both feet and also other systems for associated clinical problems. The parents of the patients visiting Paediatric Out Patient’s Department (OPD) with CTEV were informed regarding the deformity and were sent to Orthopaedic Department. In Orthopaedic Department, after counselling of the parents regarding the ponseti method, all patients were treated and managed. All patients were followed over a two year period and assessed for any deformities which were subsequently managed surgically. All the data was documented, statistically analysed using suitable statistical methods. Results: Total 53 patients had 81 idiopathic CTEV or Clubfoot between the period of three years from 2015 to 2018. The age of patients varied upto one year after birth. Among 53 patients, 38 (72%) were males and 15 (28%) were females. Out of 53 infants, 35 had one clubfoot and 23 had bilateral clubfoot (total 81 clubfoot in 53 infants). The mean age of initial presentation to treatment was 3.5 weeks, 11 out of 53 infants came in 1st week of life. Out of 53 infants, 21,14,6,5,4,2 were followed-up for 7-12 months, 13-18 months, 0-6 months, 25-30 months, 19-24 months and 31-36 months, respectively. Out of 81 clubfoot; 76 (93.83%) had achieved near normal correction, five clubfoot (6.17%) required posteromedial soft tissue release, 67 foot (82.71%) had undergone percuteneoustenotomy and nine foot (11.11%) got corrected without tenotomy. Conclusion: CTEV or clubfoot is treated very safely and effectively by using ponseti method. It is rapidly decreasing the necessity of extensive surgery. This method should be encouraged to be set as the gold standard treatment of congenital clubfoot or CTEV by national efforts.

Evaluation and outcome of ponseti method in the form of treatment of congenital idiopathic clubfoot

Talipes equinovarus or clubfoot, in the definition is a congenital deformity concludes of cavus, forefoot adduction, heel varus, ankle equinus and internal tibial torsion. The overall demographic prevalence of clubfoot was 1.30 per 1000 live births; 1.37 among non-Hispanic whites, 1.30 among Hispanics, and 1.14 among non-Hispanic blacks or African Americans. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Our study aim was to evaluate Ponseti Method in the form of treatment of congenital idiopathic clubfoot. This was a quasi-experimental study was conducted in the department of Orthopaedic Surgery in Rajshahi Medical College Hospital, Rajshahi, Bangladesh during the period from January 2018 to December 2019. Data were collected prospectively in randomized pattern from patients with idiopathic clubfoot, presenting in this hospital. Both, unilateral, bilateral were included in the study. In this study, we have treated 47 children with idiopathic clubfoot by Ponseti Method of correction of serial manipulation and casting. Among the 47 children, 24 had unilateral and 23 bilateral involvement. Male were 27 and remaining 20 were female. Most children had grade III and grade IV (Dimeglio et al grading) deformity. The mean number of casts required was 5.67 (4 to 10). Tenotomy was required for 18 patients (38.29%). The scores for the entire group ranged from 4.0 to 7.0 (of 19) and 4 to 19 (of 28) in the Dimeglio classification. Pirani scores for the age group 0- 6 months were 4.45, 6 months to 1 year were 5.29 and 1-2 years were 5.65 respectively. The results were excellent in 37 (79 %), good in 7 (14 %) and inefficient in 3 (6 %). Initial and final scores were statistically evaluated with paired „ T‟ test with a „ T‟ value of 37.13 with a „ P‟ value of less than 0.001. Thus there was a significant reduction in the score from the pre level because of intervention. Results: Similar good results and low requirement for surgical interventions other than Achilles tenotomy, which forms part of the Ponseti regimen, were found. In terms of number of patients, the success rate is 93.6% and in terms of the number of feet the success rate is 93.6%. This study demonstrates that treatment of congenital talipes equine varus by conservative management of Ponseti Method can considered as one of the most common and effective treatment method.

An external fixator and limited release in the treatment of neglected, recurrent, relapsed and resistant talipes equinovarus deformity of the feet

Introduction: The existence of resistant and neglected talipes equinovarus deformity of the foot is still prevalent in many parts of the world, serving as a challenge to an orthopedic surgeon to convert this complex deformity into a normal functioning foot. Our study aims to evaluate the results of our mid-path treatment in neglected, resistant, relapsed, and rigid clubfoot. Our treatment protocol's objectiveswere (1) the foot must become plantigrade at the end of the treatment. (2) Patient must be able to wear normal shoes. Patients and Methods: Our study included 35 feet belonging to 29 patients (six cases of bilateral congenital talipes equinovarus) aged between 2 years and 8 years with an average age of 4.8 ± 2.5 years. Our protocol includes soft-tissue release and frame fixation using a mini external fixator at the same time. After frame removal, an above-knee cast was given for 3 weeks. The average follow-up period was 3.8 ± 1.2 years. Results: We achieved excellent results in 30 cases, 3 cases had a fair result, and 2 cases had a poor result using Pirani score. Two cases had superficial infection and two cases required additional procedures. The average fixator duration was 10 weeks. Conclusion: Our mid-path protocol for managing neglected and rigid talipes equinocavovarus deformity has excellent outcomes with satisfactory patient compliance to the treatment with added advantages of rapid correction and decreased pain during and reduced external fixator duration. Level of Evidence: Level IV.

Outcome Analysis of Lipomeningomyelocele Repair in Children in a Tertiary Care Center in Nepal

Introduction: Lipomeningomyelocele (LMM) is a common neural tube defect especially prevalent in low income countries. When they get appropriate care, long term result is generally good provided the patient receives good neurosurgical, pediatric and rehabilitation care. Surgery is the mainstay of treatment. Our aim was to analyze immediate and long-term results of lipomeningomyelocele repair in symptomatic patients presenting to TU Teaching Hospital, Kathmandu, Nepal.&#x0D; Methods: Thirteen patients admitted to Department of Neurosurgery from January 2017 to December 2018 were evaluated. All patients underwent MRI of whole spine before surgery. Surgical procedures involved total excision of lipoma and repair in 10 patients and subtotal excision and repair in 3 patients. Division of filum terminable could be donein 8 patients. Follow up varied from 6 months to 2 years.&#x0D; Results: This study included 8 (61.5 %) patients of lumbosacral LMM, 3 (23%) patients of sacral LMM and 2 (15.38%) patients of thoracolumbar LMM. About 2 (15.38%) were operated before 3 months of age, 2 (15.38%) were operated between 3-6 months of age, 5 (38.46%) were operated between 6-12 months of age and 4 (30.7%) were operated after 1 year. All children except one presented with lump on back since birth and four presented with urinary incontinence, one presented with bilateral club foot. Four (30.7%) patients had weakness of one or both lower limbs. Two (15.38%) patients had improvement in urinary incontinence, two unchanged and one had developed urinary incontinence postoperatively. Four children with had weakness of lower limbs; one patient improved whereas three patients did not improve postoperatively. There was no development of post operative hydrocephalus after LMM repair. Three (23%) patients developed wound infection who responded well with regular dressings and antibiotics.&#x0D; Conclusion: Lipomeningomyelocele repair can be done with satisfactory outcome with total excision of lipoma and division of filum terminale. Patients with residual diploma and undivided filum terminale should be observed closely for the development of progressive neurological deterioration.

Septo-optic dysplasia with amniotic band syndrome sequence: a case report

IntroductionDe Morsier syndrome, or septo-optic dysplasia, is a rare, heterogeneous, complex condition with a highly variable phenotype. It is characterized by optic nerve hypoplasia, pituitary gland hypoplasia, and midline brain abnormalities, including absence of septum pellucidum and corpus callosum dysgenesis. Diagnosis is made clinically by the presence of any two or more features from the clinical triad.Case presentationWe report a case of a premature African newborn male baby born to nonconsanguineous parents who presented to our institution with agenesis of the septum pellucidum, unilateral optic nerve hypoplasia, and pituitary stalk hypoplasia. However, he had intact central endocrine function. He also presented with limb defects due to constricting amniotic band syndrome. Other dysmorphic features were low-set ears, microcephaly, and bilateral talipes equinovarus. He otherwise had a normal neurological examination result. Over time, he had an adequate weight gain and was managed by a multidisciplinary team.ConclusionDe Morsier syndrome still represents a diagnostic challenge, despite advances in neuroimaging and genetic studies, due to the heterogeneous nature of the disorder. This case adds to existing knowledge on the vascular pathogenesis of septo-optic dysplasia.

Lower extremity characteristics in recurrent clubfoot: Clinical and gait analysis findings that may influence decisions for additional surgery

BackgroundPatients with recurrent clubfoot may seek intervention to address impairments that impact gait function. An understanding of these impairments and associated gait issues will provide valuable information about ongoing treatment requirements. Research QuestionThe purpose of this study was to describe the prevalence of impairments and associated gait deviations in children with recurrent clubfoot and to evaluate whether these findings differ depending on unilateral or bilateral presentation. MethodsEighty-four affected feet (42 unilateral, 21 bilateral) were retrospectively reviewed. History, clinical exam, and gait data were collected. Statistical analysis included evaluations of associations between clinical exam and gait parameters and differences among patients with unilateral versus bilateral clubfoot and a database of healthy controls. ResultsThe average age was 7.5 ± 3.3 years for unilateral and 7.0 ± 2.8 years for bilateral patients. Patients presented with limited passive ankle dorsiflexion (unilateral/bilateral:67%/57%), limited ankle plantar flexion strength (unilateral/bilateral:53%/55%), metatarsus adductus (unilateral/bilateral:86%/83%) and internal foot-thigh angles (unilateral/bilateral:83%/82%), while only a subset presented with internal bi-malleolar axis angles (unilateral/bilateral:36%/45%). The most common gait deviations were internal foot progression (unilateral/bilateral:76%/73%), external hip rotation (unilateral/bilateral:66%/69%), reduced peak ankle plantar flexion moments (unilateral/bilateral:84%/83%), and reduced peak ankle power generation (unilateral/bilateral:67%/74%). Passive dorsiflexion was significantly correlated with peak dorsiflexion during stance and swing in both groups. Patients with unilateral compared to bilateral clubfoot showed decreased peak dorsiflexion and an associated knee flexor moment. SignificancePatients with recurrent clubfoot show gait deviations at the ankle that can be explained by joint level impairment and compensations at the knee, hip and pelvis. Patients with unilateral clubfoot typically show decreased dorsiflexion range of motion and associated greater gait impacts and compensations than bilateral clubfoot. Understanding the relationships between impairments and gait function and the implications of unilateral versus bilateral clubfoot will help improve prognostic ability and optimize future treatment outcomes.

EP05.04: Prenatal diagnosis of a 7,6MB 2q14.3q22.1 deletion detected by SNP array in a fetus with isolated bilateral club foot: a case report

A 37-year-old primigravida woman conceived by in vitro fertilisation underwent fetal anomaly scan at 20 weeks of gestation. Ultrasonographic examination showed a fetal isolated bilateral clubfoot. Amniocentesis was performed despite cell free DNA screening result due to advanced maternal age was found negative for chromosomes 13, 18, 21, X, and Y. Single nucleotide polymorphism (SNP) array showed a 7,6MB 2q14.3q22.1 deletion. Proper genetic counseling was given to parents. The family opted for termination of pregnancy at 26 weeks of gestation. Postnatal fetal examination revealed bilateral club foot and minor dysmorphic findings. A 7,6MB 2q14.3q22.1 deletion was confirmed by postnatal genetic testing. There is a substantial number of structurally abnormal fetuses have chromosomal abnormalities that are not detecable by cfDNA screening. Then all women in whom a structural anomaly is identified by ultrasonograpyhy should be offered diagnosting testing with chromosomal microarray analysis.

EP15.26: Complete chorioamniotic membrane separation associated with bilateral club foot

EP15.26: Complete chorioamniotic membrane separation associated with bilateral club foot

EP.24Recessive mutations in CAV3 - a new differential diagnosis of early-onset neuromuscular disorders

Dominant CAV3 mutations account for a very wide phenotypical spectrum, including limb girdle muscular dystrophy (LGMD), rippling muscle disease (RMD), distal myopathy or asymptomatic hyperCKemia. Very few recessive cases have been reported to date with mild clinical features. Here we report a 19-month-old male presenting antenatally with reduced foetal movements from 36/40 and possible polyhydramnios. Family history had been unremarkable except for a history of speech and language delay in 2 siblings. He was delivered by elective Caesarean section at 38 weeks gestation. He was hypotonic at birth and was given facial oxygen and started on intravenous antibiotics until sepsis had been excluded. He quickly established spontaneous breathing and breast feeding. He was re-admitted to hospital when he was 2 months old with bronchiolitis when he was noted to have generalized hypotonia pronounced axially, with significant head lag and scarce antigrativity movements in his legs. There was bilateral talipes but there were no other contractures. DTR were difficult to elicit. He was not dysmorphic and did not have any facial weakness or ophthalmoplegia. CK was elevated up to 7398 IU/L. Brain MRI and cardiac evaluation were normal. His muscle biopsy showed abnormal variation in fibre size, increase in internal nuclei, necrosis and regeneration with modest endomysial chronic inflammation. Molecular analysis revealed a homozygous CAV3 mutation (c.10_17delGAAGAGCA; p.Glu4Hisfs*17) in trans. Further muscle biopsy IHC studies revealed complete caveolin-3 deficiency. Subsequently the patient achieved independent sitting at the age of 8 months, crawled from 1 year and walked independently at 18 months. No rippling of muscle was noted on further examination. This report expands the genetic and clinico-pathological spectrum of CAV3-associated disease, and suggests that recessive CAV3 mutations ought to be considered in the differential diagnosis of early-onset neuromuscular disorders.

Outcome Analysis of Lipomeningomyelocele Repair in Children in a Tertiary Care Center in Nepal

Introduction: Lipomeningomyelocele (LMM) is a common neural tube defect especially prevalent in low-income countries. When they get appropriate care, long term result is generally good provided the patient receives good neurosurgical, paediatric and rehabilitation care. Surgery is the mainstay of treatment. Our aim was to analyze immediate and long-term results of lipomeningomyelocele repair in symptomatic patients presenting to TU Teaching Hospital, Kathmandu, Nepal. Methods: Thirteen patients admitted to Department of Neurosurgery from January 2017 to December 2018 were evaluated. All patients underwent MRI of whole spine before surgery. Surgical procedures involved total excision of lipoma and repair in 10 patients and subtotal excision and repair in 3 patients. Division of filum terminale could be done in 8 patients. Follow up varied from 6 months to 2 years. Results: This study included 8(61.5 %) patients of lumbosacral LMM, 3(23%) patients of sacral LMM and 2( 15.38%) patients of thoracolumbar LMM . About 2 (15.38%) were operated before 3 months of age, 2 (15.38%) were operated between 3-6 months of age, 5 (38.46%) were operated between 6-12 months of age and 4 (30.7%) were operated after 1 year. All children except one presented with lump on back since birth and four presented with urinary incontinence, one presented with bilateral club foot. Four (30.7%) patients had weakness of one or both lower limbs. Two (15.38%) patients had improvement in urinary incontinence, two unchanged and one had developed urinary incontinence postoperatively. Four children with had weakness of lower limbs; one patient improved whereas three patients did not improve postoperatively. There was no development of postoperative hydrocephalus after LMM repair. Three (23%) patients developed wound infection who responded well with regular dressings and antibiotics. Conclusion: Lipomeningomyelocele repair can be done with satisfactory outcome with total excision of lipoma and division of filum terminale. Patients with residual lipoma and undivided filum terminale should be observed closely for the development of progressive neurological deterioration.

Cloacal dysgenesis sequence associated with esophageal atresia and tracheoesophageal fistula: A case report and review of literature

Absence of any orifice in perineum, presence of smooth perineum, and absence external genitalia are characteristic of cloacal dysgenesis sequence (CDS). Newborn of 40w gestational age, born to mother with oligohydramnios, had very low APGAR scores, and was put on ventilator. Child had dysmorphic facies, short neck, compressed chest, no urinary bladder swelling, absence of any perineal orifice, a raised fold of skin at the site of phallus and bilateral talipes calcaneovalgus. Esophageal atresia (EA) was diagnosed clinically and radiographically. Pulmonary hypoplasia, distal tracheoesophageal fistula (TOF), thin, flat and broad cervical vertebrae with spina bifida, partial sacral agenesis and cardiac anomalies were demonstrated by radiographs and echocardiography respectively. Child progressively more desaturated on ventilator and died at 16h after birth before detailed assessment including sex could be done. CDS results from failure of urorectal septum to fuse with cloacal membrane at 7 th week of intrauterine life. It can occur in male and female. CDS is lethal resultant from associated severe pulmonary hypoplasia and renal insufficiency. Very rarely such child is born alive as in our case. Association of CDS with EA+TOF is extremely rare. In view of 5 long-term survival reports of CDS, prenatal diagnosis is warranted and treatment should be initiated.

Reproductive safety of bisphosphonates in women of childbearing age

Bisphosphonates (BPs) are bone resorption inhibitors, which are increasingly used in the treatment of bone metabolic diseases in women of childbearing age. It is unclear whether the use of BPs in women of childbearing age will affect the health of their offspring. This article retrieved 66 reports in the past 40 years by searching on the databases of Pubmed, Embase, Ovid, Medline and so on. A number of reports found that BPs may be responsible for shortening gestational age, increasing spontaneous abortion, and decreasing neonatal birth weight. Three women′s offsprings were found to have abnormal blood calcium after birth. Cases of skeletal malformations include two bilateral talipes equinus, one Apert′s syndrome and one rickets. However, there have been many reports of no reproductive abnormalities or abnormal blood calcium level. Occasionally, children breast-fed by women who had received BPs have had a transient hypocalcemia. There is currently insufficient evidence to confirm that BPs can cause significant reproductive malformations during pregnancy or pre-pregnancy. However, due to the long-term presence of BPs in the bones, women of childbearing age who have a need for pregnancy should choose to use these drugs with caution. Key words: Bisphosphonate; Women of childbearing age; Reproductive safety; Breast-feeding; Pregnancy; Fetus

Accelerated Ponseti method: First experiences in a more convenient technique for patients with severe idiopathic club feet

BackgroundCongenital Idiopathic Talipes Equinovarus (CTEV), or clubfoot, is a complex deformity that involves pathological anatomy in the foot with ankle equinus, hindfoot varus, midfoot cavus and forefoot adductus [1]. Universal agreement is established about Ponseti technique as the initial management for this deformity. This preliminary study aims to investigate the possibility of having a braceable foot through a proposed accelerated Ponseti method by which, manipulations, 5 castings and Achilles tendon tenotomy are implemented in a week. MethodsThis study included 11 patients with 16severe congenital idiopathic clubfeet treated by an accelerated Ponseti method. The method involves manipulation of the deformed foot, and 1st casting in one day, with the 2nd, 3rd, 4th, 5th castings in the 4th, 5th, 6th, 7th day post-manipulation. After the 4th cast removal, Achilles tenotomy was performed with subsequent three-week casting for all patients. Nonparametric tests were used for comparing the Pirani scores before starting the treatment and after removal of final cast. ResultsFive patients had bilateral club foot deformity. Average age at treatment was 54.8 days (range 8–150days). All patients, who had severe congenital idiopathic club feet with a Pirani score of 6, underwent the accelerated Ponseti technique. After removal of the three-week cast, the scores median was 0.59, (range 0–1.5), indicating a correction of the deformity and having braceable feet in all patients without experiencing any short-term complication. ConclusionsThe first step accelerated Pnoseti technique was found to be safe and effective for initial correction of severe idiopathic clubfoot deformity in children below three months of age , though it is an initial study that needs more studies with more follow up data.

Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.

ObjectiveThe diagnosis of fetal akinesia deformation sequence (FADS) is a challenge. Motor assessment is of additional value to advanced ultrasound examinations (AUE) for in utero FADS diagnosis before 24 weeks of gestation.MethodsAll consecutive fetuses with greater than or equal to two contractures on the 20 week structural anomaly scan (2007–2016) were included. Findings at AUE, including motor assessment were analysed and related to outcome.ResultsSixty‐six fetuses fulfilled the inclusion criteria. On the basis of the first AUE, FADS was suspected in 13 of 66, arthrogryposis multiplex congenita (AMC) in 12 of 66, bilateral pes equinovares (BPEV) in 40 of 66, and Holt‐Oram syndrome in one of 66. On the basis of the first motor assessment, the suspected diagnosis changed in 19 of 66, in 13 of 66 worsening to FADS, six of 66 amelioration from FADS, and confirmed FADS in seven of 13. The result was 20 FADS, seven AMC, and 38 BPEV. Second AUE in 44 fetuses showed additional contractures in two of eight FADS, and one intrauterine fetal death (IUFD). The second motor assessment changed the diagnosis in three of 43, one worsening from BPEV into FADS, two ameliorations from FADS, and confirmed FADS in seven by deterioration of motility. The result was nine FADS, six AMC, and 29 BPEV.ConclusionThe results suggest that motor assessment has additional value to distinguish between FADS, AMC, and BPEV.

Does laterality of deformity influence the severity of the idiopathic clubfoot?

Background: The idiopathic clubfoot has been widely reported as the commonest congenital deformity of the lower limbs with incidence of approximately 1-2 in 1000 live births. Its exact aetiology is not known. The deformity is bilateral in more than half of the cases. This study was designed to compare the severity of bilateral and unilateral idiopathic clubfoot, and to determine if there is any correlation between the left and right feet of bilateral cases.Methods: Records of all patients with idiopathic clubfoot who presented at our clubfoot clinic between January 2013 and November 2018 were reviewed. Patients were categorized into two groups, the 'Bilateral Idiopathic Clubfoot' and 'Unilateral Idiopathic Clubfoot' groups. The degree of deformity of each affected foot was categorized based on the Pirani score at presentation as 'Less Severe' for scores less than or equal to 4.0. Statistical analysis and tests for associations and correlation between variables were done using IBM SPSS version 22.0.Result: Records of 185 idiopathic clubfoot cases belonging to 120 (65 bilateral, 55 unilateral) patients who met the inclusion criteria were studied. The age range of the patients at presentation was 3 days to 24 months. The degree of deformity was proportionately more severe in the 'Bilateral Idiopathic Clubfoot' group compared to the 'Unilateral Idiopathic Clubfoot' group (p<0.0001). The left and right feet of the bilateral cases were highly correlated (r=0.861, p<0.0001).Conclusion: Bilateral idiopathic clubfoot cases were more severely deformed than unilateral idiopathic clubfoot cases. Left and right feet of bilateral cases were highly correlated.Keywords: Severity, bilateral, idiopathic, clubfoot, correlation

Prevalence and characteristics of congenital talipes equinovarus (clubfoot) in Northern Ghana: a two year retrospective descriptive study

Objective: This study aimed to determine the prevalence and phenotypic characteristics of clubfoot in the Northern Region, one of the most deprived regions of Ghana.Method: Parameters of interest included sex distribution, laterality, types of clubfoot, annual trends and prevalence rate. Data was collected in the sole clubfoot clinic for the region from January 2015 to December 2016. A descriptive statistical analysis of the data was conducted using SPSS version 16. Result: A total of 112 cases were recorded, resulting in a prevalence rate of 0.9 per 1000 live births. The highest number of cases for both years was recorded in January. Twice the number of males were affected as females and bilateral clubfoot formed 65.5% of case presentations while idiopathic clubfoot made up 67.9% of total clubfoot types. Almost same numbers of left (n=19) feet were affected as right (n=20) in unilateral clubfoot.Conclusions: The phenotypic characteristics were similar to findings in other parts of Ghana, Africa and the world although the prevalence rate was lower than expected. Future investigations into associated risk factors and the influencers of the phenotypic and annual trends are therefore warranted.

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature

The recessive PIEZO2-associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, and progressive symptoms of distal arthrogryposis and scoliosis. Here, we describe the youngest patient with DAIPT to date, who, at the age of 3.5 years, did not show a single clinical sign of distal arthrogryposis or contractures, but had a history of bilateral clubfoot operations. On the contrary, he presented with some features, not described thus far, such as syringohydromyelia, a small cyst of the spinal cord, moderate microcephaly with premature closure of anterior fontanelle, and spontaneous unilateral patella dislocation at the age of 32 months. Using whole exome sequencing, we identified 2 new different loss-of-function mutations in the PIEZO2 gene in our patient. We also review the phenotypes of all 16 previously published patients with DAIPT, summarize the distinctive clinical features of this rare genetic disorder, and recommend that DAIPT be included in the differential diagnosis of floppy infant. PIEZO2 is a unique ion channel that converts mechanical impulses into cellular signals and is involved in various mechanotransduction pathways. In addition to DAIPT, mutations in PIEZO2 have been described to cause 3 more distinct phenotypes of distal arthrogryposis, which are dominant and associated with gain-of-function mutations. On the contrary, recessive DAIPT is associated with loss-of-function PIEZO2 mutations.