First Trimester Use of Buprenorphine or Methadone and the Risk of Congenital Malformations.

Importance: Use of buprenorphine or methadone to treat opioid use disorder is recommended in pregnancy; however, their teratogenic potential is largely unknown. Objective: To compare the risk of congenital malformations following in utero exposure to buprenorphine vs methadone. Design, Setting, and Participants: This population-based cohort study used health care utilization data from publicly insured Medicaid beneficiaries in the US from 2000 to 2018. A total of 13 360 pregnancies with enrollment from 90 days prior to pregnancy start through 1 month after delivery and first trimester use of buprenorphine or methadone were included and linked to infants. Data were analyzed from July to December 2022. Exposure: A pharmacy dispensing of buprenorphine or a code for administration of methadone in the first trimester. Main Outcomes and Measures: Primary outcomes included major malformations overall and malformations previously associated with opioids (any cardiac malformations, ventricular septal defect, secundum atrial septal defect/nonprematurity-related patent foramen ovale, neural tube defects, clubfoot, and oral clefts). Secondary outcomes included other organ system-specific malformations. Risk differences and risk ratios (RRs) were estimated comparing buprenorphine with methadone, adjusting for confounders with propensity score overlap weights. Results: The cohort included 9514 pregnancies with first-trimester buprenorphine exposure (mean [SD] maternal age, 28.4 [4.6] years) and 3846 with methadone exposure (mean [SD] maternal age, 28.8 [4.7] years). The risk of malformations overall was 50.9 (95% CI, 46.5-55.3) per 1000 pregnancies for buprenorphine and 60.6 (95% CI, 53.0-68.1) per 1000 pregnancies for methadone. After confounding adjustment, buprenorphine was associated with a lower risk of malformations compared with methadone (RR, 0.82; 95% CI, 0.69-0.97). Risk was lower with buprenorphine for cardiac malformations (RR, 0.63; 95% CI, 0.47-0.85), including both ventricular septal defect (RR, 0.62; 95% CI, 0.39-0.98) and secundum atrial septal defect/nonprematurity-related patent foramen ovale (RR, 0.54; 95% CI, 0.30-0.97), oral clefts (RR, 0.65; 95% CI, 0.35-1.19), and clubfoot (RR, 0.55; 95% CI, 0.32-0.94). Results for neural tube defects were uncertain given low event counts. In secondary analyses, buprenorphine was associated with a decreased risk of central nervous system, urinary, and limb malformations but a greater risk of gastrointestinal malformations compared with methadone. These findings were consistent in sensitivity and bias analyses. Conclusions and Relevance: In this cohort study, the risk of most malformations previously associated with opioid exposure was lower in buprenorphine-exposed infants compared with methadone-exposed infants, independent of measured confounders. Malformation risk is one factor that informs the individualized patient decision regarding medications for opioid use disorder in pregnancy.

Obesity Increases Risk for Wound Complications After Pediatric Foot Surgery: A Retrospective Cohort Review Using the NSQIP-Pediatric Database.

BACKGROUND: As the incidence of childhood obesity continues to rise, so too does the number of obese children who undergo foot surgery. As the childhood obesity epidemic rolls on, pediatric orthopaedic surgeons will encounter obese patients with even greater frequency. Therefore, a comprehensive understanding of the risks associated with obesity is valuable to maximize patient safety. The purpose of this study is to retrospectively evaluate the relationship between obesity and postoperative outcomes in patients undergoing pediatric foot surgery across multiple institutions using a large national database. METHODS: Pediatric patients who had undergone foot surgery were retrospectively identified using the American College of Surgeons 2012-2017 Pediatric National Surgical Quality Improvement (ACS-NSQIP-Pediatric) database by cross-referencing reconstructive foot-specific CPT codes with ICD-9/ICD-10 diagnosis codes. Center for Disease Control BMI-to-age growth charts were used to stratify patients into normal-weight and obese cohorts. Univariate and multivariate analyses were performed to describe and assess outcomes in obese compared with normal-weight patients. RESULTS: Of the 3924 patients identified, 1063 (27.1%) were obese. Compared with normal-weight patients, obese patients were more often male (64.7% vs. 58.7%; P =0.001) and taller (56.3 vs. 51.3 inches; P <0.001). Obese patients had significantly higher rates of overall postoperative complications (3.01% vs. 1.32%; P =0.001) and wound dehiscence (1.41% vs. 0.59%; P =0.039). Multivariate analysis found that obesity was an independent predictor of both wound dehiscence [adjusted odds ratio (OR)=2.16; 95% CI=1.05-4.50; P =0.037] and surgical site infection (adjusted OR=3.03; 95% CI=1.39-6.61; P =0.005). Subgroup analysis of patients undergoing clubfoot capsular release procedures identified that obese patients had a higher rate of wound dehiscence (3.39% vs. 0.51%; P =0.039) compared with normal-weight patients. In multivariate analysis, obesity was an independent predictor of dehiscence (adjusted OR=5.71; 95% CI=1.46-22.31; P =0.012) in this procedure group. There were no differences in complication rates between obese and normal-weight patients in a subgroup analysis of tarsal coalition procedures or clubfoot tibialis anterior tendon transfer procedures. CONCLUSION: Obese children undergoing foot surgery had higher overall complication rates, wound complications, and surgical site infections compared with children of normal weight. As the incidence of childhood obesity continues to rise, this information may be useful in assessing and discussing surgical risks with patients and their families. LEVEL OF EVIDENCE: III.

The Effectiveness of Serial Casting in the Treatment of Recurrent Equinovarus in Children With Arthrogryposis.

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is characterized by joint contractures in 2 or more body areas, often resulting in clubfoot deformities that are typically stiffer than those seen in idiopathic clubfoot deformities. While surgery is routinely used to treat clubfoot in AMC, it has a high rate of recurrence and complications. Current literature suggests serial casting (SC) could be useful in treating clubfoot in AMC, though evidence of its effectiveness is limited. METHODS: Passive range of motion (PROM), dynamic foot pressure, parent-reported Pediatric Outcomes Data Collection Instrument, brace tolerance, and the need for post-casting surgery were evaluated retrospectively in children with AMC treated with SC to address clubfoot deformities. Analysis of variance or paired t tests were used as appropriate on pre-casting, short-term (within 6 mo after SC) and/or longer-term (6 to 18 mo after SC) parameters to determine the effectiveness of SC. Brace tolerance before and after SC was analyzed using the Global Test for Symmetry, and medical records were reviewed to determine the need for surgery post-SC. RESULTS: Forty-six children (6.1±3.1 y old) were cast an average of 2.5±1.9 times, resulting in 206 SC episodes. PROM showed improvement in ankle dorsiflexion and forefoot abduction in the short term (P<0.05), returning to baseline measurements in the long term (P=0.09). Brace tolerance improved after casting (P<0.05). Only 15% of feet required surgery at follow-up at 10.3±5.5 years. There were no significant changes in dynamic foot pressure or Pediatric Outcomes Data Collection Instrument results after SC, except for an increase in the pain subtest (P<0.05). CONCLUSIONS: Serial casting in children with AMC can be effective in temporarily improving PROM and improving brace tolerance, but it does not impact dynamic barefoot position. Positive impact of conservative management in children with AMC can potentially delay or reduce the need for invasive surgical intervention by improving PROM and brace tolerance. LEVEL OF EVIDENCE: Level III, Retrospective Comparative Study.

The Ponseti Method for the Treatment of Clubfeet Associated With Down Syndrome: A Single-institution 18-year Experience.

BACKGROUND: Although the Ponseti method has been used with great success in a variety of nonidiopathic clubfoot deformities, the efficacy of this treatment in clubfeet associated with Down syndrome remains unreported. The purpose of this study is, therefore, to compare treatment characteristics and outcomes of clubfoot patients with Down syndrome to those with idiopathic clubfoot treated with the Ponseti method. METHODS: An Institutional Review Board-approved, retrospective review of prospectively gathered data were performed at a single pediatric hospital over an 18-year period. Patients with either idiopathic clubfeet or clubfeet associated with Down syndrome who were less than 1 year of age at the outset of treatment were treated by the Ponseti method, and had a minimum of 2 year's follow-up were included. Initial Dimeglio score, number of casts, need for heel cord tenotomy, recurrence, and need for further surgery were recorded. Outcomes were classified using the Richards classification system: "good" (plantigrade foot +/- heel cord tenotomy), "fair" (need for a limited procedure), or "poor" (need for a full posteromedial release). RESULTS: Twenty clubfeet in 13 patients with Down syndrome and 320 idiopathic clubfeet in 215 patients were identified. Average follow-up was 73 months for the Down syndrome cohort and 62 months for the idiopathic cohort. Down syndrome patients presented for treatment at a significantly older age (61 vs. 16 d, P =0.00) and with significantly lower average initial Dimeglio scores than the idiopathic cohort (11.3 vs. 13.4, P =0.02). Heel cord tenotomy was performed in 80% of the Down syndrome cohort and 79% of the idiopathic cohort ( P =1.00). Recurrence rates were higher in the Down syndrome cohort (60%) compared with the idiopathic group (37%), but this difference was not statistically significant ( P =0.06). Need for later surgical procedures was similar between the 2 cohorts, though recurrences in the Down syndrome group were significantly less likely to require intra-articular surgery (8.3% vs. 65.5%, P =0.00). Clinical outcomes were 95% "good," 0% "fair," and 5% "poor" in the Down syndrome cohort and 69% "good," 27% "fair," and 4% "poor" in the idiopathic cohort ( P =0.01). CONCLUSIONS: Despite the milder deformity and an older age at presentation, clubfeet associated with Down syndrome have similar rates of recurrence and may have better clinical outcomes when compared with their idiopathic counterparts. When deformities do relapse in Down syndrome patients, significantly less intra-articular surgery is required than for idiopathic clubfeet. LEVEL OF EVIDENCE: Level III.

Peroneal Nerve Dysfunction in Patients with Clubfoot Deformity: Evaluation of Clinical Presentation and Treatment.

BACKGROUD: Complete peroneal nerve dysfunction associated with congenital clubfoot is uncommonly reported. Our retrospective study highlights the recognition of clinical presentation and mid-term outcomes of treatment in these patients. METHODS: Eight out of 658 patients undergoing treatment for clubfoot were identified with unilateral complete peroneal nerve dysfunction associated with congenital clubfoot. Three patients presented primarily to our center; 5 were treated elsewhere initially. All patients were treated with Ponseti casts, Achilles tenotomy, and subsequent foot abduction bracing. Diagnosis of complete peroneal nerve dysfunction was confirmed using nerve conduction velocity studies in all patients. After full-time bracing, an insole polythene molded ankle foot orthosis was given. Three patients underwent tibialis posterior transfer to improve foot dorsiflexor power. RESULTS: The mean age at presentation was 1.3 years (range, 1 week-5 years). All patients had prominence of lateral 3 metatarsal heads and dimpling of intermetatarsal spaces. At a mean follow-up of 5.1 years, mean shortening of 1.2 cm in tibia (range, 1-2.5 cm) and mean calf wasting of 4.4 cm were observed. There was no relapse of any clubfoot deformity till the final follow-up. CONCLUSIONS: Prominence of lateral metatarsal heads and dimpling of intermetatarsal spaces should raise early suspicion of peroneal nerve dysfunction. Standard Ponseti protocol is useful in treatment of these patients. Tibialis posterior transfer to dorsum partially restores the ankle dorsiflexion.

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing. The patient is the first male known to be affected and presented with additional features not previously described with EVEN-PLUS syndrome. These features include agenesis of the septum pellucidum, a short chest and sternum, 13 pairs of ribs, a single hemivertebra, laterally displaced nipples, hydronephrosis, unilateral cryptorchidism, unilateral single palmar crease, bilateral clubfoot, and hypotonia. qPCR analysis provides supporting evidence for a nonsense-mediated decay mechanism for the HSPA9 truncating variant. In silico 3D modeling supports the pathogenicity of the c.955C > T (p.L319F) missense variant. The study presented here further describes the syndrome and broadens its mutational and phenotypic spectrum. Our study also lends support to HSPA9 variants as the underlying etiology of EVEN-PLUS syndrome and ultimately provides a better understanding of the molecular basis of the condition.

Guided Growth for Ankle Valgus Deformity: The Challenges of Hardware Removal.

BACKGROUND: Ankle valgus deformity is associated with conditions such as clubfoot, cerebral palsy, and myelodysplasia. Guided growth strategies using a transphyseal screw provide effective correction of ankle valgus deformity. When correction occurs before skeletal maturity, screw removal is required to prevent overcorrection in the coronal plane. In this study, we reviewed the outcomes of guided growth procedures for correction of ankle valgus and related difficulty with hardware extraction. METHODS: A retrospective review of patients with ankle valgus managed with transphyseal screw placement was performed. Clinical and radiographic data, including the lateral distal tibial angle (LDTA), type of screw placed, and time to correction was recorded. At hardware removal, we reviewed elements associated with difficult extraction defined as requiring the use of specialized screw removal/extraction sets or inability to remove the entirety of the screw. RESULTS: One hundred nineteen patients (189 extremities) with a mean age of 11.7 years at time of screw placement met study inclusion criteria. Following correction of the valgus deformity, hardware removal occurred at an average of 18.4 months after placement of the screw. Preoperatively, the mean LDTA for the entire cohort was 81.3 degrees, and was corrected to a mean LDTA of 91.1 degrees. Complicated hardware removal occurred in 69 (37%) extremities. These 69 extremities had hardware in place an average of 1.8 years compared with an average of 1.4 years in extremities without difficult extraction (P<0.01). Six (9%) screws were unable to be removed in their entirety. Rebound valgus deformity occurred in 5 extremities (3%). CONCLUSIONS: Extraction of transphyseal screws in the correction of ankle valgus can be problematic. Specialized instrumentation was required in approximately one third of cases. Longevity of screw placement may be a factor that affects the ease of extraction. Additional exposure, access to specialized instrumentation, and additional operative time may be required for extraction. LEVEL OF EVIDENCE: Level IV-case series.

The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis.

BACKGROUND: The Ponseti method effectively treats idiopathic clubfoot, but its effectiveness in treating the stiffer clubfoot associated with arthrogryposis is less clear. The purpose of this study was to assess the comparative effectiveness of the Ponseti method in 5-year-old children with either idiopathic clubfoot or clubfoot due to arthrogryposis. METHODS: The outcomes of the Ponseti method were retrospectively evaluated in children with idiopathic clubfoot and clubfoot associated with arthrogryposis. The children with clubfoot were seen at our hospital between 2012 and 2019 and were 4.0 to 6.9 years old at the time of their evaluation. Outcomes of the 2 groups of children with clubfoot were assessed using passive range of motion, foot pressure analysis, the Gross Motor Function Measure Dimension-D, and parent report using the Pediatric Outcomes Data Collection Instrument. These results were also compared with the same measures from a group of typically developing children. Surgical and bracing history was also recorded. RESULTS: A total of 117 children were included (89 idiopathic clubfoot and 28 associated with arthrogryposis) with an average age of 4.8±0.8 years. The historical gait analyses of 72 typically developing children were used as a control, with an average age of 5.2±0.8 years. Significant residual equinovarus was seen in both children with idiopathic clubfoot and associated with arthrogryposis according to passive range of motion and foot pressure analysis when compared with normative data. Children with arthrogryposis demonstrated limited transfer and basic mobility, sports functioning, and global functioning while children with idiopathic clubfoot were significantly different from their typically developing peers in only transfer and basic mobility. CONCLUSIONS: Although children with idiopathic clubfoot continue with some level of residual deformity, the Ponseti method is effective in creating a pain-free, highly functional foot. In children with clubfoot associated with arthrogryposis, the Ponseti method is successful in creating a braceable foot that can delay the need for invasive surgical intervention. LEVEL OF EVIDENCE: Level III, Therapeutic Studies-Investigating the Results of Treatment.

A Long-term Follow-up of Young Adults With Idiopathic Clubfoot: Does Foot Morphology Relate to Pain?

BACKGROUND: Individuals with clubfoot, treated in infancy with either the Ponseti method or comprehensive clubfoot release, often encounter pain as adults. Multiple studies have characterized residual deformity after Ponseti or surgical correction using physical exam, radiographs and pedobarography; however, the relationship between residual foot deformity and pain is not well defined. The purpose of the current study was 2-fold: (1) to evaluate the relationship between foot morphology and pain for young adults treated as infants for idiopathic clubfoot and (2) to describe and compare pedobarographic measures and outcome measures of pain and morphology among surgically treated, Ponseti treated, and typically developing feet. METHODS: We performed a case-control study of individuals treated for clubfoot at 2 separate institutions with either the Ponseti method or comprehensive clubfoot release between 1983 and 1987. All subjects (24 treated with comprehensive clubfoot release, 18 with Ponseti method, and 48 controls) were evaluated using the International Clubfoot Study Group (ICFSG) morphology scoring, dynamic pedobarography, and foot function index surveys. During pedobarography, we collected the subarch angle and arch index as well as the center of pressure progression (COPP) on all subjects. RESULTS: Foot morphology (ICFSG) scores were highly correlated with foot function index pain scores (r=0.43; P<0.001), although the difference in pain scores between the surgical and Ponseti group did not reach significance. The surgical group exhibited greater subarch angle and arch indexes than the Ponseti group, demonstrating a significant difference in morphology, a flatter foot. Finally, we found more abnormalities in foot progression, decreased COPP in the forefoot and increased COPP in the midfoot and hindfoot, in the surgical group compared with controls. CONCLUSIONS: Measures of foot morphology were correlated with pain among all treated for clubfoot. Compared with Ponseti method, comprehensive surgical release lead to greater long-term foot deformity, flatter feet and greater hindfoot loading time. LEVEL OF EVIDENCE: Level III-Therapeutic.

The incidence of biphalangeal fifth toe: Comparison of normal population and patients with foot deformity.

BACKGROUND: Pedal biphalangism, which was also defined as symphalangism, is seen at a frequency that cannot be ignored; however, no study can be found in the literature evaluating biphalangism in normal population in comparison to those who have foot disorders. The aim of this study was to evaluate the incidence of the pedal fifth toe symphalangism in normal population and in patients with foot deformity including hallux valgus, pes planus, pes cavus, and pes equinovarus. We hypothesized that pedal fifth toe symphalangism may be a predisposing factor or an accompanying structural variation for foot deformity. MATERIALS: Patients admitted to the emergency department of our center in October and November 2016 were defined as the control group, and patients with the diagnosis of hallux valgus, pes planus, pes cavus, and pes equinovarus treated between 2011 and 2016 in our department were defined as the foot deformity group. Individuals who had anteroposterior, oblique, and lateral radiographs of foot were included in the study. RESULTS: One thousand and four patients participated in the cross-sectional observational study. Biphalangeal fifth toe was found in 328 of 1004 (32.7%) patients. In foot deformity group ( n = 672), 222 patients (33%) had biphalangeal fifth toe. In the control group, 106 (31.9%) of the 332 patients had biphalangeal fifth toe. There was no statistically significant difference in the incidence of biphalangeal fifth toe between the two groups ( p = 0.72). CONCLUSIONS: According to the results of this study, biphalangeal fifth toe is a common pedal anatomical variant seen approximately in one-third of the population who have either foot deformity or not. This information may be valuable for podiatrist undertaking the conservative or surgical treatment of fifth toe-related disorders.

Midterm Results of the Ponseti Method for Treatment of Clubfoot in Patients With Spina Bifida.

BACKGROUND: Clubfoot occurs in 30% to 50% of patients with spina bifida. The Ponseti casting method has changed treatment of idiopathic clubfoot to a primarily nonoperative regimen. The Ponseti method is now widely applied to clubfoot in spina bifida, however, few studies report treatment outcomes. Most available studies include heterogeneous diagnoses or short-term results. The purpose of this study is to report midterm outcomes in patients with spina bifida and clubfoot treated with the Ponseti method. METHODS: IRB-approved retrospective chart review of 17 consecutive patients (26 feet) below 1 year of age with spina bifida and clubfoot treated with Ponseti method. Charts reviewed for age at treatment initiation, number of casts, surgeries performed, recurrence of deformity, and further treatments. Primary outcome was recurrence of deformity requiring further treatment. Data were analyzed using t tests for means and χ tests for categorical data. RESULTS: Initial correction was achieved in 26 of 26 feet patients. A total of 23 of 26 feet patients underwent a surgical procedure for the tendo-Achilles at an average age of 105 days, 12 percutaneous tenotomies (percT) and 11 open tendonectomy (openT). At average follow-up of 5 (1.8 to 7.5) years, 11 feet (42.3%) in 8 patients were successfully treated with Ponseti method. Of the 15 feet (57.7%) with recurrence, 10 required posterior releases, 4 posterior-medial-lateral releases and 1 tendon transfers. Average age at further treatment was 1.5 years (0.9 to 3.1 y). Those with recurrence required more casts before tendon surgery (7.6 vs. 6.1, P=0.02). A total of 100% patients (12/12) with percT had recurrence of deformity, compared with 18% (2/11) of patients with openT (P<0.0005). CONCLUSIONS: Midterm evaluation of Ponseti method for clubfoot in spina bifida shows a successful outcome in 42.3%. Recurrence with openT was significantly lower than percT and also substantially lower than previously published recurrence rates in spina bifida (33.3% to 68%). In spina bifida, Ponseti method leads to reliable initial correction and is useful to decrease extensive soft tissue release. An open excision of the Achilles should be performed. Families should be counseled about high risk of recurrence and potential need for further treatment. LEVEL OF EVIDENCE: Level III-retrospective comparative study.

Joint hyperlaxity prevents relapses in clubfeet treated by Ponseti method-preliminary results.

PURPOSE: The aim of the study was to evaluate the role of joint hyperlaxity (by Beighton score) as a protective factor for clubfoot relapse. METHODS: Patients with idiopathic clubfoot treated with the Ponseti method between January 2004 and December 2012, without other congenital foot deformity, and not previously treated by open surgery were included in either the Relapse group (n = 23) if it was a clubfoot relapse or the Control group (n = 19) if no relapse was noted. Joint laxity was evaluated using the Beighton score at the latest follow-up against the Normal group (n = 22, children matched by sex and age without clubfoot deformity). RESULTS: We found a significantly higher joint laxity in the Control group (4.58, 95% confidence interval [CI]: 2.1-7.06) as compared to the Relapse (3.17, 95% CI: 1.53-4.81, p = 0.032) and Normal (3.14, 95% CI: 1.78-4.5, p = 0.03) groups. The univariate logistic regression showed a 5.28-times increase in the risk of relapse for a Beighton score lower than 4/9 points (odds ratio = 5.28; 95% CI = 1.29-21.5; p = 0.018). CONCLUSIONS: Joint hyperlaxity could be a protective factor for clubfoot relapse.

Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report.

BACKGROUND: Spina bifida and congenital talipes equinovarus (CTEV) are common congenital malformations which may occur together and increase morbidity. Monozygous twins are particularly at risk of these malformations and discordance in one type of malformation is typical. The occurrence of both spina bifida and CTEV in one twin of a monozygotic pair is rare. CASE PRESENTATION: A 22 year-old Cameroonian primigravida at 36 weeks of a twin gestation was received in our district hospital at the expulsive phase of labour on a background of sub-optimal antenatal care. A caesarean section indicated for cephalo-pelvic disproportion was performed and life monoamniotic male twins were extracted. The first twin was normal. The second twin had spina bifida cystica and severe bilateral CTEV. Routine postnatal care was ensured and at day 2 of life, the affected twin was evacuated to a tertiary hospital for proper management. He was later on reported dead from complications of hydrocephalus. CONCLUSIONS: Spina bifida cystica with severe bilateral CTEV in one twin of a monoamniotic pair illustrates the complexity in the interplay of causal factors of these malformations even among monozygotic twins who are assumed to share similar genetic and environmental features. The occurrence and poor outcome of the malformations was probably potentiated by poor antenatal care. With postnatal diagnoses, a better outcome was difficult to secure even with prompt referral. Early prenatal diagnoses and appropriate counseling of parents are cardinal.

Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot. The deletions were characterized using GTG banding and aCGH microarray analysis. Concurrent 5p and 5q interstitial deletions in humans have not been previously reported. We also discussed the relationship between the 5q deleted region and clubfeet.

Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis.

Sacral agenesis is a rare congenital defect which is associated with foot deformities such as congenital talipes equinovarus (CTEV) and less commonly congenital vertical talus (CVT). We report a 3-year-old Caucasian girl who was born with right CTEV and left CVT secondary to sacral agenesis. Her right foot was managed with a Ponseti casting method at 2 weeks, followed by an Achilles tenotomy at 4 months. The left foot was initially managed with a nocturnal dorsi-flexion splint. Both feet remained resistant and received open foot surgery at 10 months producing plantigrade feet with neutral hindfeet. At 19 months, she failed to achieve developmental milestones and examinations revealed abnormal lower limb reflexes. A full body MRI was performed which identified the sacral agenesis. We advocate early MRI of the spine to screen for spinal defects when presented with resistant foot deformities, especially when bilateral.

Mobius Syndrome: A 35-Year Single Institution Experience.

BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015. Records and radiographs were reviewed for associated orthopaedic conditions and their management. RESULTS: In total, 44 patients with Mobius syndrome were identified. Age at presentation ranged from 6 days to 14 years. When compared with the general population, patients with Mobius syndrome had an increased incidence of clubfoot (41%), Poland syndrome (20%), and scoliosis (14%). Clubfoot treated both before and after the institution of Ponseti casting had a high rate of requiring posteromedial release, with a significant rate of subsequent revision. Hip dysplasia was noted in 1 patient and required surgical correction. Other associated syndromes included arthrogryposis, Pierre Robin syndrome, and chromosome 10 defect. CONCLUSIONS: Mobius syndrome is accompanied by an increased rate of several orthopaedic problems; most notably clubfoot, scoliosis, and upper extremity differences that often require surgical treatment. The management of clubfoot in the setting of Mobius syndrome often requires surgical intervention due to failure of casting, and seems to have a higher rate of need for revision. Early involvement of orthopaedists in the care of patients with Mobius syndrome is often necessary. Orthopaedist should counsel families that treatment may be more complex than that of idiopathic disease. LEVEL OF EVIDENCE: Level IV-case series.

Effectiveness of the Ponseti method for treating clubfoot associated with myelomeningocele: 3-9 years follow-up.

Clubfoot in myelomeningocele patients is characterized by its stiffness, severe rigidity and has traditionally been treated with extensive soft-tissue release surgery with poor outcomes. We present our experience using the Ponseti method to treat clubfoot associated with myelomeningocele. This was a retrospective, consecutive review over a 10-year period in our tertiary centre. On initial presentation, patients were assessed using the Pirani scoring system and the standard Ponseti method was initiated. Our outcome measures were successful functional correction of deformity defined as achieving a plantigrade pain-free foot. Secondary outcome measures included relapse and the need for surgical procedures. A total of 11 children with 18 myelomeningocele-associated clubfeet were included, with an average follow-up duration of 4.5 years (range 3-9 years). The average age at presentation was 4.7 weeks, with an average Pirani score of 5.5. Initial correction was achieved in all children with an average of 7 (range 4-9) Ponseti casts and tendo-achilles tenotomy was performed in 17 of 18 feet (94.4%). Nine children with 15 of 18 (83.3%) myelomeningocele-associated clubfeet achieved a satisfactory outcome at the final follow-up, with functional, pain-free feet. Recurrence occurred in five of 15 (33.3%) feet, which was managed successfully with a second tendo-achilles tenotomy and further Ponseti casting. Two children three of 18 (16.7%) failed Ponseti treatment. Ponseti method is an effective first-line treatment for myelomeningocele-associated clubfoot to achieve functional painless feet; children will often require more casts and have a higher risk of relapse.

Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare congenital genetic osteodystrophy, which has a prevalence of 1:20,000. OI is caused by the mutation of the COL1A1/COL1A2 genes, leading to a deficit of quality and/or quantity in the synthesis of procollagen-α type 1. Seven different forms of diverse clinical entity have been classified by Sillence and Glorieux, although, recently, up to 11 forms characterized by different genetic mutations have been recognized. Patients with OI suffer from extreme bone fragility and osteoporosis, which often predisposes them to frequent fractures. This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III. Patient's mother also suffers from OI type IV. METHODS: The treatment was started by placing femoro-podalic corrective casts, according to the Ponseti method, but some unexpected problems occurred during this treatment. When the patient was 3 months of age, we decided to correct the clubfoot before the time limit planned, performing a bilateral posteromedial surgical release. RESULTS: Three weeks after surgery the casts were removed and replaced with bilateral Spica cast-like braces. On the 6th postoperative week, the patient began wearing Bebax corrective shoes, after 1 year ambidextrous orthopedic shoes. Now, he is 2 years old and has started to walk properly without any orthesis. CONCLUSION: In the presence of an orthopedic pathology associated with OI, it is recommended to manage the patient according to the underlying pathology, always considering the bone fragility associated with OI. The final surgical treatment to correct the clubfoot can be done earlier, if necessary. In our opinion, this uncommon association between OI and clubfoot is non-syndromic. This means that the two congenital diseases are not necessarily included in a singular uncommon genetic syndrome, but the clubfoot was caused by multifactorial causes, especially by both the mother's bisphosphonate drug therapy and the amniocentesis performed during her pregnancy to drain polyhydramnios. In our analysis, those environmental factors could have interacted with an already altered genetic substratum, contributing to develop this rare combination of congenital disorders.

Stepwise surgical approach to equinocavovarus in patients with cerebral palsy.

This study investigated the radiologic results of a stepwise surgical approach to equinocavovarus in 24 patients with cerebral palsy and determined the extent to which each procedure affected radiographic parameters using a linear mixed model. The anteroposterior talus-first metatarsal and anteroposterior talonavicular coverage angles were improved. The calcaneal pitch angle, tibiocalcaneal angle, lateral talus-first metatarsal angle, and naviculocuboid overlap were also improved. The Dwyer sliding osteotomy affected the tibiocalcaneal angle, whereas first metatarsal dorsal wedge osteotomy improved the calcaneal pitch angle and lateral first metatarsal angle. The stepwise surgical approach is effective for correction of equinocavovarus in cerebral palsy patients.