BACKGROUND: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994-2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance.
METHODS: This case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994-2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources.
RESULTS: Infants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45-1.58) for isolated and 0.19 (CI 0.17-0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates.
CONCLUSIONS: From 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance.

To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.
Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/-) to determine the sequence of events in seizure-related cardiac death.
Ninety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardiography was normal. Cardiac intervention was required in 3 of 98 (≈3%) patients with AHC. In the mouse model, resting ECGs showed intracardiac conduction delay; during induced seizures, heart block or complete sinus arrest led to death.
We found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.

BACKGROUND: Distraction osteogenesis is frequently used for brachymetatarsia.
METHODS: Brachymetatarsia of the fourth ray was treated with the Ilizarov method in 10 females. Distraction rate was 1.00-0.75mm a day. Radiography and ultrasonography were used to study the regeneration course throughout the distraction and fixation phases.
RESULTS: Mean lengthening achieved was 2.28cm in the average distraction period of 30.2 days and average fixation phase of 50.2 days. Ultrasonography detected the regeneration signs and zonal structure of the regenerate earlier than radiography. It confirmed slow regeneration in two patients and their distraction rate was corrected. One patient had premature consolidation on distraction day 10 and needed re-osteotomy.
CONCLUSIONS: Combination of radiography and ultrasonography to study bone regeneration in brachymetatarsisa provides a better monitoring of distraction callus progression. Ultrasonography is of great value to detect regeneration problems during early stages of lengthening.

OBJECTIVE: To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.
METHODS: Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.
RESULTS: Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).
CONCLUSIONS: The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.

Hallux varus is most commonly seen iatrogenically following overaggressive lateral release, removal of the fibular sesamoid, or overaggressive removal of the medial eminence. There are several reported cases of traumatic hallux varus, although this is much less common. We present a case of traumatic hallux varus in a patient who was later found to have bilateral absence of her fibular sesamoids. We postulated that lack of her fibular sesamoid led to weakness of her lateral capsular ligaments, thereby making her more susceptible to this injury. We performed a repair using a split extensor hallucis longus tendon transfer that was transected proximally, rerouted the tendon under the deep transverse intermetatarsal ligament, and secured it to the first metatarsal with a Bio-Tenodesis (Arthrex, Inc, Naples, Florida) screw. At 22 months postoperatively, she has demonstrated maintenance of correction and has resumed use of normal shoe gear and participation in activities. Our goal was to demonstrate a repair for this condition that successfully maintained correction over time while still allowing for functionality of the first metatarsophalangeal joint.

FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.

BACKGROUND: Depending on the direction of the subtalar joint, a foot deformity generally tends towards pronation (pes planovalgus) or supination (pes cavovarus). However, the combination of hindfoot varus and flat midfoot/forefoot (pes planovarus) is an exception to this rule. Pes planovarus has so far only been referred to in connection with Müller-Weiss disease and congenital disease. We diagnosed pes planovarus in otherwise healthy patients without these diseases.
METHODS: Forty patients with 54 symptomatic feet who were treated between August 2012 and July 2016 were included (mean age, 44.1 ± 15.7 years; 15 male/25 female). They were selected from 1064 consecutive cases (3.8%). Inclusion criteria were hindfoot varus and flat midfoot/forefoot. Their symptoms, radiographs, and therapies within the first 3 months were retrospectively analyzed. The position in the hindfoot alignment view (HAV), talometatarsal-1 angle lateral (TMT1lat) and dorsoplantar (TMT1dp), talocalcaneal angle lateral (TCAlat) and dorsoplantar (TCAdp), and calcaneal pitch angle (CPA) were measured on a DICOM/PACS system.
RESULTS: The mean radiological results (standard values from the literature in brackets) were as follows: the hindfoot was significantly in varus in the HAV (-6.9 ± 3.6 mm [-1.6 ± 7.2 mm]; P < .001), the TMT1lat was significantly flatter (-6.7 ± 5.8 degrees [8.4 ± 5.9 degrees]; P < .001), the TMT1dp was significantly less in abduction (1.5 ± 7.9 degrees [7.7 ± 8.2 degrees]; P = .005), the TCAdp showed no difference (25.9 ± 7.9 degrees [24.1 ± 5.7 degrees]; P = .118), the TCAlat was significantly larger (47.5 ± 6.1 degrees [43.4 ± 7.1 degrees]; P < .001), and the CPA was significantly flatter (17.6 ± 3.9 degrees [24.5 ± 3.0 degrees]; P < .001). The most frequent symptoms were stress-induced foot pain (n = 33), hallux valgus (n = 20), chronic ankle instability (n = 17), metatarsalgia (n = 15), chronic midfoot pain (n = 13), heel pain (n = 12), and lesser toe deformities (n = 8). Thirty-one feet were treated conservatively and 23 operatively.
CONCLUSIONS: This study showed the existence of pes planovarus without Müller-Weiss disease or congenital disease. This unusual foot form leads to difficulties if standard treatment strategies are applied, which raises the issue of the correct treatment for such patients.
METHODS: Level IV, retrospective case series.

Brachymetatarsia is the > 5 mm shortening of the metatarsal parabolic arc of the foot, in one or more metatarsals. It is directly related with the early closure of the epiphyseal cartilage or with early fusion of the epiphyseal line of the distal end of the metatarsal. The fourth metatarsal is usually the most affected one. Females are more commonly affected, with a female to male ratio of 25:1; 72% of cases have bilateral involvement. The causes may be congenital, posttraumatic or result from specific conditions. A prospective, comparative study was conducted of patients with a diagnosis of congenital brachymetatarsia seen in 2007-2008 and 2008-2012. Seven patients were included in the former period: six girls and one boy. Eight patients were included in the latter period: five girls and three boys. The mean shortening achieved in the first group was 21.1 mm; in the second one, 18 mm, without regression. The daily distraction in both groups was 0.5 mm. Metatarsal elongation by means of callotaxis with external fixators is an appropriate procedure for adolescent patients about to achieve epiphyseal closure. The best results are obtained with gradual distraction at a rate of 0.5 mm per day.

OBJECTIVE: To evaluate the presence of symptoms of attention deficit and hyperactivity disorder (ADHD) in intellectually gifted adults and children.
METHODS: Two cross-sectional studies were performed in children and adults whose intelligence quotient (IQ) had been previously evaluated using Raven\'s Progressive Matrices (RPM) test. Seventy-seven adults displaying IQ scores above the 98th percentile were assessed using the Adult Self-Report Scale (ASRS-18) for signs of ADHD and a modified Waldrop scale for minor physical anomalies (MPAs). Thirty-nine children (grades 1-5) exhibiting IQ scores above the 99th percentile, as well as an equally matched control group, were assessed for ADHD by teachers using the Swanson, Nolan and Pelham IV Rating Scale (SNAP-IV) as used in the NIMH Collaborative Multisite Multimodal Treatment Study of Children with Attention-Deficit/Hyperactivity Disorder (MTA-SNAP-IV).
RESULTS: In gifted adults, the frequency of ADHD-positive cases was 37.8%, and the total MPA score was significantly associated with ADHD (p < 0.001). In children, the ADHD-positive case frequency was 15.38% in the gifted group and 7.69% in the control group (odds ratio [OR] = 2.18, p = 0.288).
CONCLUSIONS: The high frequency of ADHD symptoms observed, both in gifted adults and in gifted (and non-gifted) children, further supports the validity of this diagnosis in this population. Furthermore, the significant association between MPAs and ADHD suggests that a neurodevelopmental condition underlies these symptoms.

BACKGROUND: Metatarsus adductus (MA) is the most common congenital foot deformity observed in children.
OBJECTIVE: The aims of this study were: (1) to analyze the evolution of a corrective bandage for semirigid MA in newborns and (2) to recommend the age interval at which to start treatment of MA with the corrective bandage alone, without the need of splints.
METHODS: An observational clinical study was conducted.
METHODS: The study was conducted at Virgen Macarena University Hospital in Seville, Spain. Children born with semirigid MA at the hospital during the years 2010-2011 were included. Corrective bandaging was applied to all children until clinical correction of the deformity. Sex, laterality of the deformity, weight and length of the newborn, age at the start of treatment, antecedents related to the pregnancy and birth, type of treatment (bandaging, splints), and correction or no correction with bandaging alone were recorded. Age differences at the start of the bandaging treatment between children whose deformity was corrected with and without the need of splints were examined. The receiver operating characteristic curve method was applied to analyze the predictive ability of the age at the start of bandaging treatment relative to whether the deformity was corrected or not corrected with bandaging alone.
RESULTS: The bandage achieved complete correction in 68.1% of the children and corrected the deformity more frequently in girls compared with boys. Of the 56 children who began the treatment within the first month of life, 92.8% achieved correction of the foot deformity with the corrective bandaging alone.
CONCLUSIONS: Patients\' follow-up time was only 2 years, so it was only feasible to analyze the corrective bandaging method over the short term and medium term.
CONCLUSIONS: Corrective bandages showed high effectiveness, particularly in girls, and overall when started within the first month of life.