Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Tricho-Rhino-Phalangeal syndrome is a rare autosomal dominant genetic disorder caused by mutations in the TRPS1 gene. This malformation syndrome is characterized by distinctive craniofacial features including sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. In this report, we describe two patients with the physical manifestations and genotype of TRPS type I but with learning/intellectual disability not typically described as part of the syndrome. The first patient has a novel heterozygous two-base-pair deletion of nucleotides at 3198-3199 (c.3198-3199delAT) in the TRPS1 gene causing a translational frameshift and subsequent alternate stop codon. The second patient has a 3.08 million base-pair interstitial deletion at 8q23.3 (113,735,487-116,818,578), which includes the TRPS1 gene and CSMD3. Our patients have characteristic craniofacial features, Legg-Perthes syndrome, various skeletal abnormalities including cone shaped epiphyses, anxiety (first patient), and intellectual disability, presenting unusual phenotypes that add to the clinical spectrum of the disease.

Chronic C1-C2 Rotatory Subluxation Reduced by C1 Lateral Mass Screws and C2 Translaminar Screws: A Case Report.

BACKGROUND: C1-C2 rotatory subluxation can result from a variety or etiologies. Pediatric patients are particularly susceptible to C1-C2 rotatory subluxation. If left untreated the condition is termed an atlantoaxial rotatory fixation (AARF) and chronic neck pain and deformity can result. Patients failing conservative treatment or those with recurrent or chronic rotatory subluxation may require halo treatment or surgical intervention. This illustrative case report is about a patient with chronic C1-C2 AARF who was treated with C1 lateral mass screws and C2 translaminar screws, a treatment that has not been addressed by this technique in a pediatric population. METHODS: This is a retrospective case review. RESULTS: After an unsuccessful attempt at reduction, an 11-year-old girl underwent surgery to treat her C1-C2 AARF. Through an all posterior approach, screws were placed bilaterally into the C1 lateral masses followed by the placement of C2 translaminar screws bilaterally. A small amount of distraction was applied through the screw construct to open up the C1-C2 articulation and the AARF was open reduced and fused. A detailed postoperative computed tomographic scan focused on the occiput C1-C2 joint confirmed the anatomical reduction of the joint complex. CONCLUSIONS: The patient had cosmetically pleasing relief of her torticollis and was doing well at 60 months after surgery. LEVEL OF EVIDENCE: Level IV.

Suture Anchor Repair for Distal Patellar Tendon Avulsion in Tibial Tubercle Fractures: A Technical Description and Report of Two Cases.

Tibial tubercle avulsion fractures, though rare, pose a significant challenge in pediatric orthopedics, particularly in athletic adolescents. For nondisplaced fractures, conservative treatment involves the use of braces or casts, while displaced fractures necessitate operative intervention, often through screw fixation. Concomitant soft tissue injuries should also be identified and addressed operatively to ensure complete repair of the extensor mechanism. This paper introduces a method for open reduction and internal fixation (ORIF) of tibial tubercle fractures with suture anchor repair of the distal patellar tendon avulsion. Two case examples of 14-year-old males with displaced fractures undergoing this procedure are presented. After standard screw fixation of the displaced fragment was performed, a single suture anchor was placed into the tibia and an onlay tension slide technique was utilized to secure the distal patellar tendon avulsion. Both patients underwent immobilization and protected weightbearing for four weeks with physical therapy initiated at six weeks. At four months postoperatively, both patients had returned to competitive sports without issue. The described technique may represent a reliable and reproducible method for addressing the distal patellar tendon avulsion component of tibial tubercle fractures. Its biomechanical advantages contribute to the complete repair of the extensor mechanism, enabling a successful return to competitive athletics without hardware complications.

Assessment of Inter- and Intraobserver Reliability and Accuracy to Evaluate Apical Vertebral Rotation Using Four Methods: An Experimental Study Using a Saw Bone Model.

STUDY DESIGN: After placing a thoracic three-vertebra segment saw bones model on a standardized turntable, a series of anteroposterior (AP) radiographs were obtained and then set in increments to 90° rotation. Then the specimen was instrumented with 35-mm pedicle screws bilaterally and the rotation process and image acquisition were repeated. OBJECTIVE: Assess reliability and accuracy of spine surgeons evaluating apical vertebral rotation (AVR) through surgeon's visual x-ray estimation, Nash-Moe system, Upasani trigonometric method, and Upasani grading system. BACKGROUND CONTEXT: Accurate assessment of AVR is one measure surgeons can evaluate the success of intervention and potential loss of correction in scoliotic deformities. METHODS: Eighty-four representative images of uninstrumented and instrumented vertebral segments were blinded. AVR was estimated by five experienced spinal deformity surgeons using the four techniques. The surgeons' grading, estimates, and errors compared to actual rotation were calculated. Inter- and intraobserver reliability were calculated using interclass correlation (ICC). RESULTS: Each surgeon's error for simple visual estimation for uninstrumented segments was 8.7° to 17.4° (average error = 12.4°), and for instrumented segments it was 7.7° to 11.3° (average error = 9.5°). Error for the Upasani trigonometric method was -6.7° to 11.6° (average error = 0.9°). There was relatively poor accuracy for Nash-Moe system (38.2%-53.9%) compared with the Upasani grading system (76.74%-80.23%). Interobserver reliability using the Nash-Moe method was good (0.844), with intraobserver reliability from fair to excellent (0.684-0.949). Interobserver reliability for the Upasani grading method was good (0.829), with intraobserver reliability from fair to good (0.751-0.869). We found excellent interobserver reliability for Upasani trigonometric classification (0.935) with fair to excellent intraobserver reliability (0.775-0.991). The interobserver reliability of surgeons' visual estimates was good (0.898) and the intraobserver reliability from good to excellent (0.866-0.99) without pedicle screws, and interobserver reliability was excellent (0.948) and intraobserver reliability also excellent (0.959-0.986) with pedicle screws. CONCLUSIONS: We confirm that both techniques described by Upasani have good reliability and accuracy, appearing more accurate than surgeon's visual estimates or Nash-Moe system. LEVEL OF EVIDENCE: Level III.

Pediatric tibia fractures: current concepts.

PURPOSE OF REVIEW: Fracture of the tibia is a common occurrence in children. The operative treatment of pediatric tibia fractures has undergone a recent change. However, there is no clear consensus regarding the superiority of one treatment option. RECENT FINDINGS: The literature clearly supports the fact that the vast majority of pediatric tibia fractures can and should be managed nonoperatively. This is secondary to their inherent stability. A variety of factors including fracture type, location, severity and patient age determine the best treatment options for a particular fracture. A thorough understanding of these factors and how they affect outcome, help the clinician formulate the proper plan of treatment. SUMMARY: A randomized prospective controlled trial will be necessary to establish which surgical options are superior for which type of pediatric tibia fracture. Until then, recent studies have indicated that flexible intramedullary nails may lead to a shorter time to union and a decreased rate of refracture when compared with external fixation of unstable tibial shaft fractures. What remains unclear are the specific indications and contraindication for the use of flexible nails. External fixation still remains a successful treatment option for unstable tibial shaft fractures.