Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.

The Ponseti method is reportedly effective for treating clubfoot in children up to 9 years of age. However, whether age at the beginning of treatment influences the rate of successful correction and the rate of relapse is unknown. We therefore retrospectively reviewed 68 consecutive children with 102 idiopathic clubfeet treated by the Ponseti technique in four Portuguese hospitals. We followed patients a minimum of 30 months (mean, 41.4 months; range, 30-61 months). The patients were divided into two groups according to their age at the beginning of treatment; Group I was younger than 6 months and Group II was older than 6 months. All feet (100%) were initially corrected and no feet required extensive surgery regardless of age at the beginning of treatment. There were no differences between Groups I and II in the number of casts, tenotomies, success in terms of rate of initial correction, rate of recurrence, and rate of tibialis anterior transference. The rate of the Ponseti method in avoiding extensive surgery was 100% in Groups I and II; relapses occurred in 8% of the feet in younger and older children.

PurposeThe aim of this study was to elucidate developmental dysplasia of the hip (DDH) diagnosis and treatment preferences among members of the Pediatric Orthopaedic Society of North America (POSNA) and European Paediatric Orthopaedic Society (EPOS).MethodsA 54-question survey on DDH diagnosis and treatment preferences was distributed to POSNA and EPOS members. Descriptive statistics were performed.ResultsA total of 459 responses were analyzed. Ultrasound was the preferred modality for diagnosing DDH in infants less than six months old; few surgeons preferred radiographs. In all, 57% of POSNA members had radiology technicians perform ultrasounds, only 7% of EPOS members did. The percent coverage defining a dislocated hip varied greatly, the most frequent response being < 20% for POSNA and < 40% for EPOS members. Pavlik harnesses were the most popular harness/brace, used by 90% of POSNA and 71% of EPOS members. POSNA members were more likely than EPOS members to use a rigid abduction brace following initial harness/brace failure. For residual acetabular dysplasia, POSNA members were twice as likely as EPOS members to institute hip abduction bracing. Most surgeons would not perform closed reduction at less than three months of age or open reduction at less than six months of age. Most EPOS ­members used traction prior to reduction; few POSNA members did. Few POSNA and EPOS members believed that reduction should be delayed until the ossific nucleus was visible.ConclusionThere is great variation in the preferred methods for diagnosing and treating DDH. This survey is the largest transcontinental survey to compile diagnostic and treatment preferences for DDH. With wide variations in practice, there is room for quality improvement.Level of Evidence II

A level 4 study, looking at a specific patient population undergoing a particular procedure.

Purpose The Ponseti method is widely used in clubfoot treatment. Long-term follow-up shows high patient satisfaction and excellent functional outcomes. Clubfoot tendency to relapse is a problem yet to solve. Given the importance of bracing in relapse prevention, we ought to discuss current knowledge and controversies about bracing. Methods We describe types of braces used, with its advantages and disadvantages, suggesting bracing schedules and duration. We identify bracing problems and pinpoint strategies to promote adherence to bracing. Results When treating a clubfoot by the Ponseti method, the corrected foot should be held in an abducted and dorsiflexed position, in a foot abduction brace (FAB), with two shoes connected by a bar. The brace is applied after the clubfoot has been completely corrected by manipulation, serial casting and possibly Achilles tenotomy. Bracing is recommended until four to five years of age and needs to be fitted to the individual patient, based on age, associated relapse rate and timing when correction was finished. Parental non-adherence to FAB use can affect 34% to 61% of children and results in five- to 17-fold higher odds of relapse. In patients who have recurrent adherence problems, a unilateral lower leg custom-made orthosis can be considered as a salvage option. Healthcare providers must communicate with patients regarding brace wearing, set proper expectations and ensure accurate use. Conclusion Bracing is essential for preventing clubfoot relapse. Daily duration and length of bracing required to prevent recurrence is still unknown. Prospective randomized clinical trials may bring important data that will influence clinicians’ and families’ choices regarding bracing. Level of Evidence V

The objective of the study was to assess functional outcomes and quality of life of patients treated for tibial tubercle avulsion fractures (TTAFs). Retrospective study of patients under 18 years of age treated from June 2011 to May 2018. Demographic data included age, gender, mechanism of injury, side, fracture classification, associated injuries, predisposing factors, and type of treatment. Clinical results included knee range of motion, pain, return to sports, overall satisfaction, functional outcomes, and complications. At final follow-up, Tegner Lysholm Knee Scoring Scale, and Kidscreen-10 were applied. Ten patients were included, all males, with a median age of 15 years. Mechanism of injury: football (three patients), basketball (two patients), running (two patients), handball (one patient), gymnastics (one patient), and fall (one patient). Nine were treated surgically with reduction and fixation with cannulated screws or Kirschner wires, plus treatment of associated injuries (three patellar tendon avulsions, one contralateral proximal tibia epiphyseal fracture, and two prophylactic fasciotomies). One patient developed mild recurvatum and two presented minor decreased knee flexion. Eight patients returned to their previous level of sports activity. Median Tegner Lysholm Knee Score was 100/100 and Kidscreen-10 was 50/50. With appropriate treatment, nearly 100% of TTAFs have good functional outcomes and low impact on quality of life.

Purpose The treatment of unstable slipped capital femoral epiphysis (SCFE) remains controversial. Surgical dislocation and open reduction has the potential to significantly reduce the rate of avascular necrosis (AVN) by allowing direct preservation of the femoral head blood supply. The purpose of this study was to determine if open reduction of the unstable SCFE by means of surgical hip dislocation reduced the risk of AVN compared with closed reduction and percutaneous pinning. Methods We reviewed the medical records and radiographs of patients treated at our institution between the years 2000 and 2008. Sex, age, side of slip, precipitating event, pre-and post-operative anterior physeal separation (APS) and slip angle, slip severity, time between inciting event and surgical treatment, number of screws used, development of AVN, and need for subsequent surgery were evaluated. Statistical analysis was performed to compare risk factors and occurrence of AVN. Results From 2004 to 2008, we treated 12 patients with unstable SCFEs: six had closed reduction and percutaneous pinning and six underwent open reduction by means of surgical hip dislocation. There were no statistically significant differences between the two groups regarding sex, age, slip angle, APS, time to surgery, and AVN rate. At follow-up, 4 (66.7 %) patients had AVN in the group which had open reduction, while 2 (33.3 %) patients had AVN in the group which underwent closed reduction. (p = 0.57). Conclusions Open reduction of the unstable SCFE by means of surgical dislocation of the hip does not decrease the rate of AVN when compared to closed reduction.

The Ponseti technique for treating clubfoot has been popularized for idiopathic clubfoot and more recently several syndromic causes of clubfoot. We asked whether it could be used to treat recurrent clubfoot following failed posteromedial release. We retrospectively reviewed 58 children (83 clubfeet) treated by the Ponseti technique for recurrent deformity after posteromedial release in three centers. The minimum followup was 24 months (average, 45 months; range, 24-80 months). We determined initial and final Pirani scores and range of motion of the ankle and subtalar joint. Plantigrade and fully corrected feet were obtained in 71 feet (86%); 11 feet obtained partial correction; one patient failed treatment and underwent another posteromedial release. Recurrences occurred in nine