Results of treatment of congenital vertical talus by the Dobbs method.

Congenital vertical talus is a rare foot deformity. The hindfoot is valgus and equinus, the midfoot is dorsiflexed and forefoot is abducted due to a fixed dorsal dislocation of the navicular on the head of the talus and the cuboid on the anterior part of the calcaneus. The epidemiology and etiology of vertical talus is unknown. Dobbs et al. (J Bone Joint Surg Am 88(6):1192-200, 2006) described a minimally invasive alternative which allowed to avoid the need for extensive soft tissue release procedures in treatment of congenital vertical talus. Eleven congenital vertical talus feet (group 5 according to Hamanishi) in eight children (four boys and four girls) constituted the study material. Upon the diagnosis, the patients' age ranged from 5 to 26 months old (the mean - 14.6). The treatment involved serial manipulation and casting according to the reverse Ponseti method (from 4 to 7 casts) followed by a minimally invasive approach consisting in temporary stabilization of the talonavicular joint with the use of K-wire and Achilles tenotomy according to the Dobbs technique. Then patients continued the shoe and bar program for 2 years. The X-ray measurements on lateral radiographic included the talocalcaneal angle, tibiotalar angle and talar axis-first metatarsal base angle whereas AP radiographic images-the talocalcaneal angle and talar axis-first metatarsal angle. The Wilcoxon test was used to compare dependent variables. The final clinical assessment made during the last follow-up (the mean: 35.8 months, the range: 25-52) revealed that neutral position of the foot and normal range of motion were observed in ten cases and recurrence of foot deformity in one case. The last X-ray examination showed normalization all of radiological parameters, except for one case, and examined parameters were statistically significant. The minimally invasive technique described by Dobbs should be the first option in treatment of congenital vertical talus. It allows to reduce the talonavicular joint, brings good results and preserves foot mobility. The attention should be put on early diagnosis.

The Prevalence of Bunions in the Setting of Brachymetatarsia.

Brachymetatarsia is caused by premature closure of the physis and is characterized by a short metatarsal. Additional foot conditions may exist in patients presenting with brachymetatarsia, such as hallux valgus (HV). A retrospective study was performed to evaluate the prevalence of HV and brachymetatarsia in the ipsilateral foot. Ninety-seven feet with congenital brachymetatarsia were reviewed in a multi-study cohort of 66 patients who underwent surgical correction between January 2005 and August 2020 at a single institution. The group was comprised of 61 females and 5 males, with a mean age of 27 years. HV deformities were verified with standardized anteroposterior radiographs. HV was present in 29 of 97 feet for a prevalence of 30% in the feet with brachymetatarsia. Our results demonstrate a 30% prevalence of HV associated with brachymetatarsia. This information is helpful for foot and ankle surgeons managing brachymetatarsia to determine appropriate conservative or surgical management of this condition.

Subacute two stage metatarsal lengthening with gradual distraction for brachymetatarsia: A consecutive case series and literature review.

BACKGROUND: This study examined the functional and clinical outcomes of subacute two stage metatarsal lengthening with gradual distraction for brachymetatarsia. This technique was developed to overcome the disadvantages of one-stage metatarsal lengthening and gradual distraction. METHODS: Four feet of three patients with congenital brachymetatarsia underwent subacute two stage metatarsal lengthening with gradual distraction. Pain, function, and alignment were assessed preoperatively and at follow-ups using the American Orthopaedic Foot and Ankle Society (AOFAS) lesser metatarsophalangeal-interphalangeal scale, and any complications were recorded. RESULTS: The patients were followed up for a mean of 18.1 ± 6.9 (range, 12.6-28.1) months. The mean metatarsal length gain was 15.2 ± 3.2 (range, 12.1-18.5) mm, and the corresponding percent increase was 32.5 % ± 7.0 % (range, 25.7-41.1 %). The mean AOFAS score (0-100) was 97.5 ± 5.0 at the final follow-up. The external fixator index was 10.2 ± 1.5 (range, 8.1-11.6) days/cm. None of the patients experienced metatarsophalangeal stiffness, subluxation or dislocation of the metatarsophalangeal joint, loss of correction, pin tract infection, delayed union, nonunion, or angular deformities. CONCLUSION: Subacute two stage metatarsal lengthening with gradual distraction is a reliable alternative treatment for brachymetatarsia.

The Role of the Shortened Proximal Phalanx in the Setting of Brachymetatarsia.

Brachymetatarsia is a condition in which a metatarsal bone does not grow out to full length. This is caused by premature physeal closure. The proximal phalanx associated with the shortened metatarsal helps achieve the natural parabola of the foot. A hypoplastic proximal phalanx is a common finding in patients with brachymetatarsia. The goal of this study was to determine the length of the proximal phalanx in the setting of brachymetatarsia, and how much the shortening is attributed to the clinically smaller toe. We performed a retrospective study to evaluate the length of the proximal phalanx in the shortened ray. After the metatarsal was brought out to the desired length of correction, the proximal phalanx was measured on radiographs. Ninety-seven feet with congenital brachymetatarsia were reviewed in a cohort of 66 patients who underwent surgical correction between January 2005 and February 2020 at a single institution. The group was comprised of 61 females and 5 males, with a mean age of 27.5 years. The average length of the proximal phalanx associated with the affected metatarsal was noted to be 18.9 ± 3.83 mm for males and 15.6 ± 4.02 mm for females. Our results indicate the shortened proximal phalanx is 5 mm shorter when compared to normal population and is a contributing factor to the shortened clinical appearance of the digit in brachymetatarsia. Treating surgeons should be aware of this to better educate patients on the influence of the digit on the overall shortening seen in cases of brachymetatarsia.

Brachymetatarsia: A Classification for Surgical Treatment.

Brachymetatarsia is a congenital osseous and soft tissue deformity of a ray(s) of the foot. Because there is no particular consensus of methodology of lengthening for brachymetatarsia, the authors introduce a comprehensive anatomic classification and a surgical guide to treatment of each classification type. This classification combines the number of the metatarsal(s) affected and the letter(s) indicating the type of brachymetatarsia deformity (A = axial deficiency of the metatarsal, B = bowing of the metatarsal, C = congruency of metatarsal phalangeal joint). This study reviewed of 300 brachymetatarsals in 166 patients. Fifty of the 166 (30%) patients had bilateral brachymetatarsia. Of the 300 metatarsals with brachymetatarsia, 64 (21%) were first metatarsals, 22 (7%) were second metatarsals, 28 (9%) were third metatarsals, 12 (4%) were fifth metatarsals, and 174 (58%) were fourth metatarsals. Classification types that were found was a total of 165 (55%) type A, a total of 6 (2%) type B, a total of 72 (24%) type AB, a total of 39 (13%) type AC, and a total of 18 (6%) type ABC. A total of 16 (10%) male and 150 (90%) female patients were evaluated. The mean preoperative amount of shortening of the metatarsal was 15 mm (range, 4-20 mm), as determined by the preoperative metatarsal parabola deficiency, equating to 30% of the preoperative metatarsal length. Brachymetatarsia is a complex congenital deformity which until now has not been critically analyzed. This study outlines a comprehensive brachymetatarsia classification system which provides an accurate diagnosis of the deformity and offers a surgical treatment algorithm.

Aetiology, diagnosis, and treatment of brachymetatarsia: a narrative review.

Brachymetatarsia (BM), or hypoplastic metatarsal, is an abnormal shortening of one or more metatarsal bones with a female-to-male ratio of 10.53:1. Different causes are described in the literature, such as congenital, acquired, or iatrogenic, associated with different conditions and syndromes. Its presence may develop deformity and pain; however, often feet are pain free and the major worries of patients are cosmetics. Non-operative treatments aim to improve the comfort of metatarsal heads and the possible dorsal conflict through comfortable shoes or the use of specific orthotics. The surgical treatment is anything but straightforward, with "one-stage" or "two stage" techniques, the latter better called "by gradual distraction". One-stage procedures are more rapid techniques but have limited ability to restore the desired length due to neurovascular compromise caused by acute lengthening. Insufficient correction is also possible. On the contrary, by gradual distraction procedures allow gradual distraction lengthening of more than 1.5 cm, but require the use of an external fixator, with a higher risk of complications in more than about 50% of surgeries. The adjacent metatarsal shortening should be considered in combination with other techniques, to diminish the excessive lengthening. In each case, surgeries should be always decided on each patient's concerns, deformities, and clinical needs.

Surgical management of an isolated symptomatic talonavicular coalition: a paediatric perspective.

Talonavicular (TN) coalition is a rare pathological union of the talus and navicular bones. We report the case of a 7-year-old girl with a symptomatic TN coalition, who underwent operative management with a lateral column lengthening procedure using autologous iliac crest bone grafting. There are no complications to report and the graft was incorporated at an early stage. At 3 year follow-up the patient has remained pain-free since the operation and maintained alignment. To our knowledge, this is the first reported case of TN coalition treated with reconstructive surgery in a paediatric patient.

Nonincisional Osteotomy for Gradual Lengthening by Callus Distraction for Congenital Brachymetatarsia.

Gradual lengthening by distraction osteogenesis is widely used for congenital brachymetatarsia. The usual presenting complaint is the patient's cosmetic appearance. Osteotomy is an integral element. A nonincisional surgical approach for osteotomy can reduce dorsal longitudinal scarring and help preserve the periosteal blood supply to the bone during surgical dissection. Between June 2003 and January 2019, we performed gradual lengthening by callus distraction with nonincisional osteotomy for congenital brachymetatarsia on 13 digits in 5 patients. All 5 patients were female, and their average age was 18 years old. The lengthened bones involved 3 first metatarsals, 2 third metatarsal, and 8 fourth metatarsal bones. The mean gain in length was 15.2 mm (10-21 mm). The mean duration of distraction was 36.2 days (30-48 days). The mean duration of consolidation was 62.8 days (28-103 days). The lengthened segment consolidated in all cases. One patient had early consolidation and did not wish to undergo further surgery. There were no cases of trouble due to drilling for osteotomy. All patients had a normal gait and were satisfied with the cosmetic results.

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.

Clinical characteristics of 93 cases of isolated macrodactyly of the foot in children.

BACKGROUND: The purpose of this study was to describe the clinical characteristics of macrodactyly of the foot through a large cohort of cases to further understand this rare entity. METHODS: Medical records, clinical photographs, plain radiographs, pathological findings, and intraoperative photographs of 95 feet of 93 patients were reviewed. Data including age; sex; laterality; ethnicity; birthplace; family history; and history of gestation, environment, whether smoking, or drinking during pregnancy were collected and analyzed. RESULTS: Female patients (60%), left foot (56%), and static overgrowth (63%) were more prominent in the study cohort. Southern provinces (74%) and Han Chinese ethnicity (95%) predominated in terms of geographical region and demographic distribution, respectively. Multiple-toe involvement was 2.01-times more frequent than single-toe involvement. All five toes were involved with midline toes being most frequently affected overall and a medial distribution being more common than a lateral one. The forefoot was affected in 90 feet. The affected areas (toes and forefeet) were mostly located in the innervation of the affected medial plantar nerve (91%). The nerves showed enlargement in 49 feet, fatty infiltration in 25, a tortuous course in one, and were normal in 10 feet. Only six feet involved the musculature. Enlargement of phalanges and metatarsals were observed in 92 and 57 feet, respectively, and advanced bone maturation was seen in 63 feet. Twenty-two cases had syndactyly. CONCLUSIONS: Macrodactyly of the foot is a rare congenital malformation with diverse clinical manifestations and multiple elements' involvement. It also presents the characteristics of nerve-mediated overgrowth and "nerve territory-oriented" deformity similar to that of macrodactyly of the hand.

Macrodactyly of the foot resulting from plantar nerve impairment.

The role of the plantar nerve in the pathogenesis of macrodactyly of the foot is unknown. We investigated the distribution of affected toes and forefoot in 27 feet of 26 patients with pedal macrodactyly, and how this relates to innervation of the affected plantar nerve. A preoperative ultrasound examination was performed to determine the diameter and structure of the plantar nerve. Histologic findings were recorded during surgery. The microstructure of affected plantar nerves was evaluated by hematoxylin-eosin staining, while S100 expression was assessed by immunofluorescence analysis. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene mutation in the affected nerve tissue was detected by Sanger DNA sequencing. The affected toes and forefoot involved innervation of the medial plantar nerve in 25/27 feet, the lateral plantar nerve in one foot, and both medial and lateral plantar nerves in one foot. All affected plantar nerves, which were accompanied by a fatty strip, were surrounded by or infiltrated with fat. The affected plantar nerves showed enlargement, a tortuous course, fatty infiltration, or a combination of these. Pathologic changes in affected plantar nerves involved only the epineurium and not the perineurium or endoneurium. Expression of the Schwann cell marker S100 was absent in some areas of affected nerves. Sequencing of PIK3CA exons identified a gain-of-function mutation (p.His1047Arg) in affected plantar nerves. These results indicate that pathologic impairment of the plantar nerve can lead to macrodactyly of the foot, which may be considered as a nerve trunk disease.

Value of ultrasonography and radiography for the study of bone regeneration in lengthening of the fourth ray in brachymetatarsia.

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.

Carpenter syndrome in a patient from Tanzania.

Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.

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.

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

The chromatin remodeling AT-Rich interaction domain containing 1B protein (ARID1B) also known as BAF-associated factor, 250-KD, B (BAF250B) codified by the ARID1B gene (MIM#614556), is a small subunit of the mammalian SWI/SNF or BAF complex, an ATP-dependent protein machinery which is able to activate or repress gene transcription, allowing protein access to histones through DNA relaxed conformation. ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (CSS, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by neurodevelopment delay, craniofacial dysmorphisms and skeletal anomalies. Furthermore, intellectual impairment and central nervous system (CNS) alterations, comprising abnormal corpus callosum, have been associated with mutations in this gene. Moreover, ARID1B anomalies resulted to be involved in neoplastic events and Hirschprung disease. Here we report on two monozygotic male twins, displaying clinical appearance strikingly resembling NCBRS and CSS phenotype, who resulted carriers of a novel 6q25.3 microdeletion, encompassing only part of the ARID1B gene. The deleted segment was not inherited from the only parent tested and afflicted the first exons of the gene, coding for protein disordered region. We also provide, for the first time, a review of previously published ARID1B mutated patients with NCBRS and CSS phenotype and a computer-assisted dysmorphology analysis of NCBRS and ARID1B related CSS individuals, through the Face2Gene suite, confirming the existence of highly overlapping facial gestalt of both conditions. The present findings indicate that ARID1B could be considered a contributing gene not only in CSS but also in NCBRS phenotype, although the main gene related to this latter condition is the SMARCA2 gene (MIM#600014), another component of the BAF complex. So, ARID1B study should be considered in such individuals.

Naviculectomy for two ambulatory children with intractable congenital vertical talus: redefining the indications of an old technique.

Congenital vertical talus is a rare and complex foot anomaly. Serial casting with or without minimally invasive surgery is a universal management strategy especially for children in the first year of life. Nevertheless, extensive surgical treatment of late-presenting, neglected and multiple operated children with congenital vertical talus may be required with guarded results. The results of naviculectomy as a more conservative intervention and directed exclusively at ambulatory children with intractable congenital vertical talus have not been reported. We present the radioclinical outcomes of two ambulatory children with intractable congenital vertical talus treated by naviculectomy/midtarsal resection and limited soft tissue release. One child had an isolated congenital vertical talus whereas the other had a non-isolated etiology. Generally, naviculectomy/midtarsal resection revealed a positive benefit-risk profile in children with intractably severe congenital vertical talus on the short-term. We reported favorable results in terms of foot appearance, function and radiology. We believe that a less invasive procedure like naviculectomy/midtarsal resection is an encouraging technique to investigate in children with intractable congenital vertical talus.

How to increase the accuracy of the diagnosis of the accessory bone of the foot?

PURPOSE: The study was conducted to search for confident radiological signs in symptomatic cases of accessory bones. A normal accessory bone appearance on X-ray does not exclude that the accessory bone is the source of the discomfort; because of this, MRI examination can later be applied as part of the diagnosis. METHODS: We retrospectively analysed cases of 64 patients with recognized 70 symptomatic accessory bones of the foot. The average age was 29.2 (range 8-42) years. We included only patients with X-ray and MRI examinations. We investigated the following radiological features of the bone (structural and signal) in relation to soft tissue. RESULTS: The most constant symptoms identified in our study were bone marrow oedema (93%) and soft tissue oedema (77%). Changes in structures in which accessory bones were located or in adjacent structures to accessory bone were identified: tendon changes 51%, fluid adjacent to bone 51% and tenosynovitis 46%. MRI revealed changes in bone structure that are not seen on X-ray, including changes in contour (28%), sclerosis (3%) or osteonecrosis (3%). CONCLUSIONS: MRI plays an important role in determining whether accessory bones cause symptoms because it shows specific and accurate changes in accessory bone and/or in adjacent soft tissue.

Precise Resection of Macrodactyly Under Assistance of Three-Dimensional Reconstruction Technology: A Case Report.

Macrodactyly of the foot is an extremely rare congenital malformation characterized by an increase in the size of all the elements or structures of a digit or digits. Most sources indicate that macrodactyly affects the hand more often than the foot. This rare medical condition usually requires surgical intervention with a precise preoperative plan and postoperative rehabilitation. We present a case of macrodactyly of the right foot in which surgical reduction of the foot under assistance of 3-dimensional image technology was performed with satisfying cosmetic and functional outcomes.

Staged Reconstruction for Type IV Tibial Deficiency (Distal Tibiofibular Diastasis): A Report of 2 Cases.

CASE: Congenital tibiofibular diastasis is a relatively rare form of limb deficiency, characterized by distal tibial tapering, absent ankle mortise, equinovarus foot deformity, and variable lower leg shortening. Treatment described has ranged from various forms of foot centralization with or without leg lengthening to amputation. We describe 2 cases treated in childhood by staged foot centralization by soft-tissue distraction, distal tibiotalar fusion, tibial lengthening, and subsequent limb length discrepancy equalization. At skeletal maturity, both patients ambulated independently without aid. CONCLUSIONS: Staged reconstruction with foot centralization and distal tibiotalar fusion is an option for carefully selected patients with tibiofibular diastasis who refuse foot ablation.

Toe-to-Hand Transfer in an Ulnar Hemimelia Patient: A Case Report.

Ulnar hemimelia is a rare congenital deformity. The severity of the deformity increases with the number of fingers that are absent. Clearly, grip function is impossible with a mono-finger hand. Here, we present a case report of a patient with bilateral ulnar hemimelia that included the absence of radial fingers and also deformity in the toes of his left foot. A toe-to-hand transfer was performed successfully to help the patient gain grip function. Both the patient and the parents were very pleased with the result. To our knowledge, this is the first case report of a patient with ulnar hemimelia and absent radial fingers who was treated with a toe-to-hand transfer.The most important factors in a successful surgery are careful preoperative planning and microsurgical expertise. Angiography is the key to careful planning, and physiotherapy should also be done to increase the patient's functions. The psychological well-being of patients and parents will be positively affected after a successful surgery.