Longitudinal Epiphyseal Bracket of the First Metatarsal: A Case Series on Treatment of Deformities Associated.

Longitudinal epiphyseal bracket of the first metatarsal, also known as first enclosed metatarsal, is a rare congenital disorder characterized by an abnormal development in the length of the first metatarsal ray because of the asymmetric presence of a longitudinal epiphyseal bracket. This causes interruption in the lengthways development of the affected bone, which becomes squat and short, with a trapezoidal or triangular shape, leading to a hallux varus deformity. First enclosed metatarsal occurs in 2% to 14% of all congenital defects in the hands and feet; with bilateralism in 75% of cases and a greater incidence in male patients. The deformity is classified as a differentiation defect; it is frequently associated with abnormalities such as syndactyly or polydactyly. There are different surgical treatments reported in the literature. Most of them are aimed at the excision of the epiphyseal bracket before complete skeletal maturity and frequently in the first year of life to promote a normal lengthways growth of the bone. In this study, the authors present three cases of bilateral first enclosed metatarsal in which the surgical treatment, aimed at lengthening the first metatarsal ray by using the Penning Minifixator, was instead carried out at the end of growth. This different surgical approach allowed the planning of a surgical operation involving both the skeletal structures and the surrounding soft tissue.

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via "Network Therapy of Rare Epilepsies (NETRE)" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.

Outcomes of a Minimally Invasive Approach for Congenital Vertical Talus With a Comparison Between the Idiopathic and Syndromic Feet.

BACKGROUND: Congenital vertical talus (CVT) is a rare congenital foot disorder. Approximately half of the affected children have associated neuromuscular syndromes which may further complicate the treatment. The traditional treatment involved extensive soft tissue and bony reconstructions. The minimally invasive method (Dobbs method/reverse Ponseti) has changed the treatment of CVT. There is significant variation of the reported outcome of this method in the current literature. In this study we report the outcome of this minimally invasive technique for treatment of CVT and compare the results of treatment in syndromic and idiopathic patients. METHODS: Idiopathic and syndromic patients treated from CVT with minimally invasive method from 2006 till 2016 were included in this retrospective study. We reviewed the patients' notes, radiographs and collected parents reported outcome questionnaire (Roye score) in addition to clinical examination to comprehensively report the treatment outcome. RESULTS: A total of 21 patients 30 feet were included in this study. The average age of commencing treatment was 6 months (1 to 17 mo). The mean follow-up was 6.5 years (1 to 11 y). Correction of the deformities and abnormal angles were achieved in all feet. Five of the 17 syndromic feet had recurrence while no recurrence was reported in any if the 13 idiopathic feet. At the time of the index procedure no supplementary procedures were required. The average arc of motion for foot ankle dorsiflexion and plantar flexion was 30 degrees. Patients with idiopathic CVT had a mean the Roye score of 11 while syndromic patients had a mean score of 22. CONCLUSION: The minimally invasive method is a valuable option for treatment of CVT. Idiopathic patients had no recurrence and better functional scores compared syndromic patients. There was no requirement for supplementary procedures such as tibialis anterior transfer or anterolateral release at the time of the initial surgery. LEVEL OF EVIDENCE: Level IV-case series.

Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

A case report of bilateral mirror feet with varus deformity.

OBJECTIVES: To describe a rare case of bilateral mirror feet with varus deformity and review of literature. METHODS: AP and oblique radiographs of both feet were taken. RESULTS: On radiographs, right foot showed eight toes and seven metatarsals while left foot showed eight toes and seven metatarsals, the three extra toes were present preaxially (on hallux side) in both feet, showing characteristics of postaxial toes termed as "mirror foot". Varus deformity was noted at the subtalar joint, otherwise tarsal bones appeared normal. No any syndromatic association was present. CONCLUSION: Mirror foot is a very rare congenital anomaly, we put forward this case for its rarity and unusual late presentation at the age of 22.

Is foot deformity associated with developmental dysplasia of the hip?

AIMS: To assess if congenital foot deformity is a risk factor for developmental dysplasia of the hip (DDH). METHODS: Between 1996 and 2012, 60,844 children were born in Sør-Trøndelag county in Norway. In this cohort study, children with risk factors for DDH were examined using ultrasound. The risk factors evaluated were clinical hip instability, breech delivery, a family history of DDH, a foot deformity, and some syndromes. As the aim of the study was to examine the risk for DDH and foot deformity in the general population, children with syndromes were excluded. The information has been prospectively registered and retrospectively analyzed. RESULTS: Overall, 494 children (0.8%) had DDH, and 1,132 (1.9%) a foot deformity. Of the children with a foot deformity, 49 (4.3%) also demonstrated DDH. There was a statistically significant increased association between DDH and foot deformity (p < 0.001). The risk of DDH was highest for talipes calcaneovalgus (6.1%) and club foot (3.5%), whereas metatarsus adductus (1.5%) had a marginal increased risk of DDH. CONCLUSION: Compared with the general population, children with a congenital foot deformity had a significantly increased risk for DDH and therefore we regard foot deformity as a true risk factor for DDH. Cite this article: Bone Joint J 2020;102-B(11):1582-1586.

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.

Metatarsalgia in Metatarsus Adductus Patients: A Rational Approach.

Metatarsus adductus (MA) is a congenital condition resulting in adduction of the forefoot at the tarsometatarsal joint, medial metatarsal deviation, supination of the hindfoot through the subtalar joint, and plantarflexed first ray. The exact underlying pathophysiology remains elusive. There is increasing evidence highlighting the importance of recognizing MA as an associated deformity that complicates management of hallux valgus (HV). Unfortunately, metatarsalgia and lesser toe pathology is also common in this population. We present a review regarding the epidemiology, pathomechanics, and a comprehensive surgical treatment algorithm to optimize the management of patients with MA, HV, lesser toe deformity, and metatarsalgia.

Traumatic Hallux Varus in Association with Agenesis of the Fibular Sesamoid: A Case Study.

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.

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination.

Oculodentodigital dysplasia is an autosomal dominant disorder due to GJA1 variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern. To understand the pathophysiology underlying neurologic deficits in oculodentodigital dysplasia, we studied 8 consecutive patients presenting with hereditary spastic paraplegia due to GJA1 variants. Clinical disease severity was highly variable. Cerebral MR imaging revealed variable white matter abnormalities, consistent with a hypomyelination pattern, and bilateral hypointense signal of the basal ganglia on T2-weighted images and/or magnetic susceptibility sequences, as seen in neurodegeneration with brain iron accumulation diseases. Patients with the more prominent basal ganglia abnormalities were the most disabled ones. This study suggests that GJA1-related hereditary spastic paraplegia is a complex neurodegenerative disease affecting both the myelin and the basal ganglia. GJA1 variants should be considered in patients with hereditary spastic paraplegia presenting with brain hypomyelination, especially if associated with neurodegeneration and a brain iron accumulation pattern.

Lateral foot pain due to os vesalianum pedis in a young football player; a case report and review of the current literature.

Os vesalianum pedis is a rare accessory ossicle located at the 5th metatarsal base. This anatomic variation is typically asymptomatic and usually detected incidentally on routine foot radiographs. However, it may be a source of lateral foot pain and rarely become symptomatic following traumatic ankle injuries such as an inversion ankle sprain. To date, seven symptomatic os vesalianum pedis cases that required surgical treatment have been reported in the current literature. Herein, a 17-year-old professional football player with a symptomatic os vesalianum pedis was presented. The ossicle was surgically removed upon failure of conservative treatment. At the sixth month, the patient returned to sport without any restriction or pain. Clinical presentation, diagnosis, and treatment options of symptomatic os vesalianum pedis were discussed with an extensive literature review.

Magnetic resonance and radiographic imaging of a case of bilateral bipartite navicular bones in a horse.

CASE REPORT: We describe the radiographic and magnetic resonance imaging findings associated with a case of bilateral forelimb bipartite navicular disease in a 7-year-old Warmblood gelding used for eventing. In addition to the radiographically evident partitioned navicular bones, magnetic resonance imaging (MRI) also detected other concurrent abnormalities occurring within the foot that have not been described before in other cases of navicular bone partition. MRI not only revealed soft tissue lesions of the podotrochlear apparatus, but also allowed for more detailed characterisation of the recently diagnosed osseous navicular bone pathology. CONCLUSION: Knowledge of these additional changes influenced prognostication in this case and provides an explanation for why this condition usually results in such a poor prognosis for the return to previous levels of performance in athletic patients.

Symptomatic Os Intercuneiform: A Case Report.

We encountered a case of an accessory bone in the foot in the distal portion of the tarsal navicular and the proximal portion of the intermediate cuneiform, namely an os intercuneiform. The patient presented with a history of pain on the dorsal aspect of the left foot, with tenderness and swelling. Perioperative findings revealed a synfibrotic connection between the accessory bone and the navicular and intermediate cuneiform. After unsuccessful conservative treatment, the accessory bone was excised, leading to postoperative symptomatic relief.

Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss.

Given the importance of connexin43 (Cx43, encoded by GJA1) function in the central nervous system and sensory organ processing, we proposed that it would also be crucial in auditory function. To that end, hearing was examined in two mouse models of oculodentodigital dysplasia that globally express GJA1 mutations resulting in mild or severe loss of Cx43 function. Although Cx43I130T/+ mutant mice, with ∼50% Cx43 channel function, did not have any hearing loss, Cx43G60S/+ mutant mice, with ∼20% Cx43 channel function, had severe hearing loss. There was no evidence of inner ear sensory hair cell loss, suggesting that the mechanism for Cx43-linked hearing loss lies downstream in the auditory pathway. Since evidence suggests that Cx26 function is essential for hearing and may be protective against noise-induced hearing loss, we challenged Cx43I130T/+ mice with a loud noise and found that they had a similar susceptibility to noise-induced hearing loss to that found in controls, suggesting that decreased Cx43 function does not sensitize the mice for environmentally induced hearing loss. Taken together, this study suggests that Cx43 plays an important role in baseline hearing and is essential for auditory processing.This article has an associated First Person interview with the first author of the paper.

A Novel Treatment of Nasal Stenosis Using Steel Gauging Earrings.

Nasal stenosis is an uncommon and challenging deformity. Most common etiologies for nasal stenosis include congenital, iatrogenic, trauma, and infection. Repair techniques typically include tissue replacement with grafts or flaps with subsequent stent placement. These procedures often require general anesthesia and carry high rates of restenosis. We describe a case of a 10-year-old girl with Teebi syndrome and iatrogenic nasal stenosis who underwent successful nasal dilation with inexpensive, minimally invasive steel gauge earrings.

Childhood hearing loss is a key feature of CAPOS syndrome: A case report.

CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.

A rare cause of lateral ankle pain: A symptomatic talus secundarius.

The talus secundarius is one of the rarest accessory tarsal bones, being present in 0.01% of all ankles. It is located at the lateral side of the talus, distally to the tip of the fibula. Hitherto, only five cases of a symptomatic talus secundarius have been described in literature. We presented a case of bilateral symptomatic talus secundarius in a young gymnast. There was a difference in size of the two accessory bones. The large talus secundarius in the left ankle was fixated, in the right ankle the fragment was excised. Both excision and fixation in the presented patient led to satisfactory results, both in the short and long term outcome.