Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis (LWD) to SHOX-deficient short stature. SHOX nullizygosity leads to Langer mesomelic dysplasia. Pathogenic variants can include whole or partial gene deletions or duplications, point mutations within the coding sequence, and deletions of upstream and downstream regulatory elements. Here we report two families: a non-consanguineous family with a deletion downstream of SHOX, in which the homozygous proband presented with isolated Madelung deformity, without LWD or short stature, as well as a 9-year-old girl with Madelung deformities, mesomelia, a dominant family history of Madelung deformity and a heterozygous deletion of the CNE9 region in the 3' downstream region of SHOX. These case reports provide additional information on the effects of 3' downstream deletions of SHOX, by demonstrating the limited phenotype associated with the recurrent 47.5 kb deletion in a homozygous state and the CNE9 deletion in a heterozygous state.

Pseudoarthrosis of the Distal Humerus in Pediatric Osteogenesis Imperfecta Patients: A Case Series and Literature Review.

Osteogenesis imperfecta (OI) is a rare skeletal disorder that increases a patient's susceptibility to bone fracture. One complication commonly associated with fractures in this population is the occurrence of non-union leading to pseudoarthrosis. In this case series, three cases of non-union of the distal humerus leading to pseudoarthrosis in the pediatric OI population are presented. One case presents a successful attempt at treatment, one case presents a failed attempt at treatment, and the third case presents a patient's refusal to get treated. Furthermore, a literature review highlighting other institutions' attempts, successes, and failures at treating this clinical entity is presented. Combining the data retrieved from our institution and others, this review demonstrates that there is currently no standard for treating these patients. Additionally, based on the small case series and literature review presented in this article, definitive guidelines for the treatment of pseudoarthrosis of the distal humerus in pediatric OI patients cannot be outlined. However, our findings suggest that both non-surgical and surgical treatments could be viable options for patients with asymptomatic pseudoarthrosis of the distal humerus.

Growth Modulation for the Treatment of Juvenile Hallux Valgus: A Systematic Review of Literature.

Background: Juvenile hallux valgus (JHV) is a forefoot deformity that causes pain and functional limitation. Treatment poses a challenge in terms of the optimal technique and timing of intervention. A systematic review of the literature on the use of growth modulation in treating JHV was conducted. Materials and methods: The literature review was performed using PubMed and EMBASE searches for articles investigating growth modulation in the treatment of JHV published before December 1st, 2021. Seven articles were included in the final review that matched the inclusion and exclusion criteria. The primary outcomes included the degree of correction of hallux valgus angle and intermetatarsal angle. A qualitative assessment of the articles was done due to the heterogeneity of the growth modulation methods used in these articles. Results: A total of 135 feet from 78 patients were included from the reviewed articles. Growth modulation methods included temporary screw lateral hemiepiphysiodesis of the first metatarsal, lateral drilling hemiepiphysiodesis of the first metatarsal, and a trephine plug removal of the lateral epiphysis followed by cancellous bone graft insertion. The degree of correction of the hallux valgus and intermetatarsal angles were found to be statistically significant in all studies, regardless of the technique. Conclusion: Growth modulation for JHV by lateral hemiepiphysiodesis using minimally invasive techniques produced favourable radiologic outcomes with some evidence of clinical improvement. Larger, prospective and comparative studies with objective clinical outcome measures may further consolidate this surgical approach as a mean to treating this deformity. How to cite this article: AlZeedi M, Park JP, Marwan Y, et al. Growth Modulation for the Treatment of Juvenile Hallux Valgus: A Systematic Review of Literature. Strategies Trauma Limb Reconstr 2023;18(1):51-55.

Retrograde Application of Humerus Fassier-Duval Rod in Osteogenesis Imperfecta: A New Surgical Technique.

BACKGROUND: The aim of this study is to describe the technique of retrograde application of Fassier-Duval (FD) rod for the humerus in patients with osteogenesis imperfecta (OI). This technique was developed to overcome the downsides of the previously used techniques of humerus rodding. METHODS: The study was done at a tertiary care pediatric orthopaedic hospital from April 2014 to August 2021. Skeletally immature patients with OI who underwent retrograde FD rodding were included. This surgery was performed for humeral shaft fractures/bowing limited to the distal half of the bone to ensure appropriate stability of the fixation. Surgical technique of the procedure is described in detail. RESULTS: Six patients with OI, of which 2 (33.3%) had FD rodding bilaterally, were included. The mean age at rodding was 7.6±3.5 (range: 3 to 14) years. The mean duration of postoperative follow-up was 45.5±18.0 (range: 24 to 75) months. All patients had full healing of the fracture/osteotomy, with functional alignment of their humeri. No surgical complications were observed; however, 1 (12.5%) segment only had a traumatic humerus fracture following a fall that was associated with rod migration, occurring 60 months postoperatively. This was treated with a retrograde FD rodding again, with fracture augmentation with plate and screws. CONCLUSIONS: The retrograde FD rodding technique of the humerus in OI patients is relatively simple and preserves the soft tissue surrounding the shoulder joint, with favorable outcomes. Studies with larger sample size and long-term follow-up duration are needed. LEVEL OF EVIDENCE: Level IV-case series.

Temporary Screw Lateral Hemiepiphysiodesis of the First Metatarsal for Juvenile Hallux Valgus Deformity: A Case Series of 23 Feet.

Juvenile hallux valgus (JHV) can limit the quality of life of the affected children. This study aims to evaluate the outcomes of temporary screw lateral hemiepiphysiodesis of the base of the first metatarsal. A chart review of patients who underwent temporary screw lateral hemiepiphysiodesis of the first metatarsal at a tertiary care pediatric orthopedic center was done. A total of 23 feet of 14 patients were included. The mean age of the patients was 10.6 ± 1.8 years, while the bone age was 11.1 ± 1.8 years. The mean follow-up duration was 24.7 ± 13.4 months (range: 12-60 months). The hallux valgus angle (HVA) improved from a mean of 30.9° ± 6.7° to a mean of 27.6° ± 8.2° (p = .001), while the intermetatarsal angle (IMA) improved from a mean of 14.6° ± 2.3° to a mean of 12.5° ± 3.0° (p < .001). Revision surgery was done for 5 (21.7%) feet of 3 patients for symptomatic uncorrected deformity (4 feet) or screw migration due to bone growth (1 foot). The mean HVA correction was 5.00° ± 3.7° in patients with bone age of 12 years or less compared to 1.50° ± 4.6° in patients with bone age of more than 12 years (p = .060). The radiological outcomes of temporary screw lateral hemiepiphysiodesis of the first metatarsal for JHV deformity correction are promising, especially in children with lesser bone age. The procedure was technically simple to perform and had minor complications.

Variable expressivity in a family with an aggrecanopathy.

BACKGROUND: Osteochondritis dissecans is a condition wherein there is a subchondral bone lesion that causes pain, inflammation, and cartilage damage. Dominant Familial Osteochondritis Dissecans is a rare and severe form of osteochondritis dissecans (OCD). It is caused by heterozygous pathogenic variants in the gene encoding Aggrecan; ACAN. Aggrecan, a proteoglycan, is an essential component of the articular and growth plate cartilage. METHODS: Herein, we report three individuals from one family; the proband who presented with short stature, a lower limb bone exostosis, and bilateral knee and elbow OCD at the age of 13 years old. His twin brother presented with isolated short stature and his father with short stature and lumbar disc herniation. RESULTS: Next-generation sequencing of the ACAN gene in the proband identified a frameshift variant which is also present in the brother and father with short stature. The proband was treated surgically with bilateral elbow microfracture, after the failure of conservative therapy. CONCLUSION: To the best of our knowledge, this is the first patient with an aggrecanopathy who presents with osteochondritis dissecans due to a frameshift variant. This family presents with variable expressivity which might be attributed to modifier genes.

Bilateral Hallux Valgus: A Utility Outcome Score Assessment.

Hallux valgus is the most common forefoot problem in adults. Although it can cause considerable disability and affect the quality of life of those affected, many patients seek medical attention because of cosmetic concerns. Our aim was to objectively measure the perceived health burden of living with bilateral hallux valgus. Previously validated utility outcome measures, including the visual analog scale, time trade-off, and standard gamble tests, were used to quantify the health burden for single-eye blindness, double-eye blindness, and bilateral hallux valgus in 103 healthy subjects using an online survey. The Student t test and linear regression analysis were used for statistical analysis. The mean visual analog scale, time trade-off, and standard gamble scores for bilateral hallux valgus were 0.86 ± 1.6, 0.95 ± 0.5, and 0.95 ± 0.14, respectively. These were significantly greater than the utility scores for single-eye and double-eye blindness (p < .05). Age, gender, race, income, and education were not statistically significant independent predictors of the utility scores for hallux valgus. In conclusion, we have objectively demonstrated the effect of living with bilateral hallux valgus deformities. Our sample population reported being willing to undergo a procedure with a 5% mortality rate and sacrifice 1.8 years of life to attain perfect health and avoid the bilateral hallux valgus health state. Our findings will guide us in counseling our patients and understanding how they perceive their foot deformity.

Bucket-handle meniscal tear in a 9-year-old girl: a case report and review of the literature.

Bucket-handle meniscal tears used to be rare in children younger than 10 years of age. However, nowadays, we encounter more cases because of increased sport and recreational activities. In this paper, we report on a 9-year-old girl who presented with an isolated medial meniscal bucket-handle tear of the right knee and review the literature for similar cases. Bucket-handle meniscal tears are rare in young children. However, it should be ruled out in patients with knee pain and mechanical symptoms following knee injury.

Radial head dislocation and subluxation in osteogenesis imperfecta.

BACKGROUND: Upper limb deformity in children with osteogenesis imperfecta may substantially impair function. The aims of this retrospective work were to study the prevalence of radial head malalignment (dislocation or subluxation) in different types of osteogenesis imperfecta and to identify factors linked to it. METHODS: We assessed 489 upper limbs from 254 patients (with a mean age of 9.6 years and including 130 female patients) who had various types of osteogenesis imperfecta. Radiographs representing a single time-point for each patient were assessed for the presence and direction of radial head malalignment and associated abnormalities (dysplasia of the capitellum or of the radial head or neck, calcification of the interosseous membrane, or radioulnar synostosis). Deformations of the humerus, radius, and ulna were assessed with regard to location, direction, and magnitude. The forearm range of motion in pronation and supination and the hand grip force were measured in a subset of patients. RESULTS: We observed radial head dislocation or subluxation in forty-four and thirty-nine upper extremities, respectively. The frequency of radial head malalignment was significantly higher in type-V osteogenesis imperfecta (86%) than in the other types (0% to 29%) (p < 0.001). Dysplasia of the humeral capitellum, radial head, or radial neck was associated with malalignment in all types of osteogenesis imperfecta, with the exception of capitellum dysplasia in type V. Malalignment in type V was associated with calcification of the interosseous membrane, an abnormality that was specific for type V. In the other osteogenesis imperfecta types, malalignment was commonly linked with radial and ulnar deformation and was associated with decreased forearm range of motion in supination and pronation and a lower grip force. CONCLUSIONS: Radial head malalignment is common in osteogenesis imperfecta, especially in type V. Malalignment is associated with bowing characteristics and impaired function of the upper limb. These findings may provide support for surgical correction of radial and ulnar bowing in selected patients with osteogenesis imperfecta.