Scoliosis secondary to neglected Hemivertebra: A case report.

INTRODUCTION AND IMPORTANCE: A hemivertebra is a congenital anomaly of the spine characterized by an incomplete vertebra resulting from a failure in the formation of the vertebral body. The significance of this article lies in the fact that early diagnosis of hemivertebra allows for personalized surgical treatment, which can enhance outcomes and prevent the development of spinal deformities and associated complications. CASE PRESENTATION: We report on the case of a 17-year-old girl with scoliosis secondary to lumbar hemivertebra, where surgical management was very late due to parental negligence, which delayed diagnosis. DISCUSSION: Multiple surgical procedures are currently used for hemivertebra excision. The approaches available can be globally anteroposterior or posterior alone. Late treatment of this type of deformity requires longer fusion, with a high risk of neurological complications. Early surgical intervention is therefore indicated to correct local deformities. Early correction of primary deformities helps avoid secondary changes. CONCLUSION: Hemivertebrae represent an interesting group of congenital anomalies. Their presence can potentially disrupt the normal curvature of the spine. Antenatal ultrasound screening enables early diagnosis of congenital malformations. Early diagnosis of a hemivertebra allows early surgical management that is less aggressive than when the diagnosis is made late, during growth.

Spinopelvic morphology impacts on postoperative proximal junctional kyphosis in congenital scoliosis with thoracolumbar hemivertebrae.

PURPOSE: It aims to investigate the lumbar and pelvic morphology in congenital scoliosis with thoracolumbar hemivertebrae and its impact on proximal junctional kyphosis (PJK) incidence after hemivertebra resection and short fusion. METHODS: 23 congenital scoliosis patients with thoracolumbar hemivertebra aged between 10 and 18 years were enrolled in the retrospective study. Spinopelvic sagittal parameters were analyzed on whole-spine standing lateral radiographs preoperatively, one-week postoperatively and at the final follow-up. Pearson correlations were calculated for local kyphosis (LK), lumbar and pelvic morphology parameters. Binary logistic regression and receiver operating characteristics (ROC) curve analysis were performed to identify the risk factors for PJK. RESULTS: Thoracolumbar hemivertebra caused LK of 29.2° ± 17.3°, an increased lumbar lordosis (LL) (-64.7° ± 16.3°), lower LL apex (52.2% at L5), and small pelvic incidence (PI) (36.8° ± 6.6°). LK was correlated with lumbar morphology parameters, including LL (r = - 0.837), upper arc of LL (LLUA) (r = - 0.879), thoracolumbar kyphosis (TLK) (r = 0.933), thoracic kyphosis (TK) (r = 0.762) and TK apex (TKA) (r = - 0.749). Surgical treatment improved the lumbar morphology, but not pelvic morphology. At the final follow-up, LL had returned to its preoperative value (p = 0.158). PJK occurred in 30.4% of cases as a compensatory mechanism. Preoperatively, significant differences of parameters between non-PJK and PJK groups were observed in LK and TLK. Binary logistic regression identified three independent risk factors for PJK: preoperative LLA (OR = 0.005, 95%CI = 0.000-0.287, p = 0.011), preoperative TLK (OR = 1.134, 95%CI = 1.001-1.286, p = 0.048), and preoperative lumbar lordosis morphology type (OR = 5.507, 95%CI = 1.202-25.227, p = 0.028). However, residual LK after surgery was not correlated with PJK incidence. ROC curve analysis verified that preoperative TLK > 22.59° was associated with increased PJK incidence after surgery. CONCLUSIONS: Lumbar morphology changes as a compensatory mechanism beneath the thoracolumbar hemivertebra. However, a stable pelvis tends to allow the LL to return to its preoperative value. PJK occurred as a cranial compensatory mechanism for increasing LL and corrected TLK. A larger TLK (> 22.59°) was an independent risk factor for PJK incidence in patients with type 2 and 3A lumbar lordosis morphology.

Posterior concave reconstruction with cage in the surgical treatment of complex lumbar deformity caused by lumbosacral hemivertebrae.

PURPOSE: To identify the clinical and radiological outcomes in the coronal and sagittal planes after treatment of congenital complex lumbosacral hemivertebrae (LSHV) with or without posterior concave reconstruction. METHODS: We retrospectively reviewed a consecutive series of patients with congenital LSHV deformities treated by posterior-only hemivertebra resection. The minimum follow-up was 2 years. The patients were divided into a concave-cage group and a non-cage group. The radiographic and clinical results were compared between the two groups. RESULTS: Forty patients were categorized into the cage group (n = 14) and non-cage group (n = 26). At the end of the propensity score matching analysis, 14 patients from the cage group were matched to 14 patients in the non-cage group. The lumbosacral curve and thoracolumbar/lumbar curve improved significantly in both groups at the final postoperative follow-up (P < 0.001), and the lumbosacral curve at the final follow-up was remarkably lower in the cage than non-cage group. The correction rates of the lumbosacral curve and thoracolumbar/lumbar curve were significantly higher in the cage than non-cage group. The lower lumbar lordosis improved significantly in both groups at the final postoperative follow-up (P < 0.05), and the lower lumbar lordosis at the final follow-up and its correction were remarkably higher in the cage than non-cage group (both P < 0.05). CONCLUSIONS: Posterior column reconstruction with insertion of a concave cage may achieve a higher correction rate of large lower lumbar lordosis and lumbosacral coronal deformity, attain better sagittal balance, and have fewer complications related to implant failure than posterior-only hemivertebra resection in patients with congenital LSHV.

Multilevel Customized 3D-Printed Titanium Alloy Interbody Cages used to Treat Congenital Scoliosis: A Case Report.

Introduction: Customized, patient-specific interbody cages have been used in the treatment of spinal neoplasia, degenerative disease, infection, congenital anomalies, and trauma. However, to date, their use has been limited to a single spinal level, and the utility of customized spinal implants in multiple spinal levels remains unclear. In addition, limited studies exist that compare outcomes following fusion and decompression surgery using customized implants to traditional, standard implants. Case Report: We present two cases. Case 1 consists of a multilevel deformity surgery from L3-S1 ALIF and T10-Pelvis PSF in a patient with a congenital scoliosis (CS) using customized implants on multiple spinal levels. We compare Case 1 to Case 2, in which a patient underwent a lumbar decompression and fusion for CS using standard titanium implants. While the patient in Case 1 reported improved back pain and independent ambulation at 1-year post-operative and required no revision surgery, the patient in Case 2 required revision surgery 2 years post-operative due to pseudoarthrosis. Conclusion: CS with right wedge hemivertebrae may be treated with customized implants on multiple spinal levels, and customized implants may provide benefit standard implants.

Multiple Hemivertebrae: The Natural History and Treatment of 50 Patients.

OBJECTIVE: Multiple hemivertebrae (MHV) is defined as three or more hemivertebrae, and is relatively uncommon among patients with congenital scoliosis. This study aimed to compare the natural history of different kinds of MHV and describe the surgical outcome of MHV. METHODS: In this retrospective cohort study, a total of 50 patients diagnosed with MHV were enrolled from June 2007 to June 2018. The medical records and radiographs of these patients were reviewed to summarize the characteristics of MHV. Patients with MHV were divided into the unbalanced (UB) group, partially unbalanced (PUB) group, and completely balanced (CB) group. Medical records and radiographs of MHV patients were reviewed to collect HV position, natural history, coronal and sagittal parameters. A Mann-Whitney U test was used to compare the radiographical data, such as the cobb angle of main curve and secondary curve, and Fisher's exact test was used to compare the patients in different kinds of MHV with surgical indication or not. RESULTS: The average number of hemivertebrae was 3.6 and the average main curve was 57.5°. Twenty-four of 50 patients had associated anomalies, including four patients with sacral agenesis, one with tetralogy of Fallot, two with congenital imperforate anus, and 17 with Klippel-Feil syndrome. In 22 patients who underwent MRI imaging, three patients had mild syringomyelia and three patients had diastematomyelia. The UB and PUB groups had a larger main curve and compensatory curve than the CB group. Of the 25 patients with follow-up before surgery, the curve progression rate was highest in the UB group (12.1°/year) but similar in the PUB group (4.2°/year) and CB group (3.6°/year). All patients in the UB and PUB group met the criteria for surgery. In contrast, only 10 of 23 patients in the CB group had surgical indications. Eighteen of the 37 patients with surgical indications chose to undergo surgery and the correction rate of the main curve was 51.4%. CONCLUSIONS: Early surgical intervention should be considered for most patients with UB or PUB MHV. For patients with CB MHV, surgical treatment may not be urgently needed at the first visit. Posterior hemivertebrectomy could be used for the treatment of MHV with satisfying radiographic outcome.

Failure of Posterior Lower Lumbar/Lumbosacral Hemi-Vertebra Resection: An Analysis of Reasons and Revision Strategies.

OBJECTIVE: To investigate the causes of failed primary surgery and the revision strategies for congenital scoliosis (CS) patients with lower lumbar/lumbosacral (LL/LS) hemi-vertebra (HV). METHODS: Fifteen CS patients with LL/LS HV (seven females and eight males) with a mean age of 20.4 ± 10.4 years undergoing revision surgery in our center were retrospectively reviewed. The radiographic parameters including Cobb angle, distance between C7 plumb line and center sacral vertical line (C7 PL-CSVL), thoracic kyphosis (TK), lumbar lordosis (LL) and sagittal vertical axis (SVA) were assessed at pre-revision, post-revision and the last follow-up. The causes of failure in primary operation, and radiographic and clinical outcomes of revision procedures were analyzed. RESULTS: The revision rate of patients undergoing LL/LS HV resection and correction surgery was 11.4%. The average time interval between primary surgery and revision surgery was 18.2 ± 10.6 months. The operation duration and estimated blood loss of revision surgery were 194 ± 56 min and 326 ± 74 ml, respectively. Reasons for failed primary operations were as follows: internal fixation fracture in 10 cases, curve progression in two cases, implant loose in two cases and post-operative coronal imbalance in one case. The post-revision Cobb angle was significantly improved from 29.9° ± 8.3° to 18.7° ± 6.7° (P < 0.001) with a correction rate of 37.5% ± 12.6%. At the final follow-up, the average Cobb angle was 18.9° ± 6.2° and the correction was well maintained (P = 0.788). The C7 PL-CSVL at pre-revision, post-revision and at last follow-up were 23.2 ± 9.3 mm, 14.8 ± 4.8 mm and 14.9 ± 5.4 mm, respectively. Significant improvements (P = 0.004) were observed after revision surgery and there was no evident loss of correction (P = 0.703). There was no significant difference in TK, LL and SVA before and after revision surgery (all P > 0.05). At the last follow-up, no significant correction loss of above coronal and sagittal parameters were observed (all P > 0.05). The revision methods were individualized according to the primary surgical procedures and the reasons for revision. The recommended revision strategies include incision of pseudarthrosis with sufficient bone graft, fixation of satellite rods, thorough residual HV excision, prolonged fusion to S2 and transforaminal lumbar interbody fusion at lumbosacral region. Solid bony fusion and no implant-related complication were detected during the follow-up. CONCLUSIONS: The causes of revision surgery for patients with congenital scoliosis (CS) due to lumbosacral HV were verified and implant failure with pseudarthrosis was the main reason for failed primary operation.

First-Trimester Diagnosis of Supernumerary Hemivertebra.

Hemivertebra is a common cause of congenital scoliosis and results from a lack of formation of one-half of the vertebral body. This condition is very rare and can present as solitary or as a syndrome component: i.e., the split notochord syndrome, which often implies vertebral defects, from a bifid vertebra to hemivertebrae, or fused vertebrae. We describe a case of supernumerary lateral hemivertebra detected prenatally at 12 weeks of gestation and the ultrasonography specifics that lead to early and accurate diagnosis, monitoring during pregnancy, and follow-up at the 4-year period. The case is presented to specify the importance of an early assessment of fetal spine and diagnosis of various conditions, including hemivertebrae, considering the significant association with other anomalies (cardiovascular, urinary, skeletal, gastrointestinal, and central nervous systems), which are most commonly involved. Moreover, the need to counsel future parents on the risks implied by this anomaly is important for the obstetrician. We underline the inclusion of these types of congenital conditions in high-risk pregnancy because of the frequent association with high cesarean delivery rates, growth restriction, delivery before term, and higher morbidity rates.

Two-staged posterior osteotomy surgery in complex and rigid congenital scoliosis in younger than 10 years old children.

BACKGROUND: Congenital scoliosis caused by failure of multiply vertebral segmentation with concave fused rib or unsegmented bar combined with contralateralhemivertebra is usually rigid and produces enormous asymmetric growth. Fusionless techniques have less advantage and come with some complications. Paucity of data was reported for children with complex congenital scoliosis using two-staged osteotomy surgery. METHODS: From 2006 to 2016, 11 patients less than 10 years old undergoing two staged osteotomy surgery for complex rigid congenital scoliosis were retrospectively reviewed. The analysis included age at initial surgery, second surgery and at the latest follow-up, and complications. Changes in coronal major curve, thoracic kyphosis, lumbar lodorsis, apex vertebra translation, T1-T12 length, T1-S1 length, trunk shift, and SVAwere included in radiological evaluation. RESULTS: In all, the mean follow-up was 72.5 ± 23.8 (42 to 112) months. The mean flexibility of the spine was 17.4 and 17.8 % before two surgeries. The mean age at the initial surgery was 6.6 ± 2.6 (2.5-10) years. The mean fusion level was 4.6 ± 1.3 (2 to 6) segments. The mean scoliosis improved from 67.4° to 23.7° after initial surgery and was 17.4° at the latest follow-up. The average increase of T1-S1 length was 0.92 cm per year. No patients had neurological complications. CONCLUSIONS: Two-staged osteotomy surgery including hemivertebrae resection or Y-shaped osteotomy can achieve good radiological and clinical outcomes without severe complications. This procedure can be an option of treatment for complex congenital scoliosis.

Long-term results after the one-stage posterior-only surgical correction of thoraco-lumbar kyphoscoliosis in congenital spine deformity caused by two ipsilateral hemi-vertebrae.

BACKGROUND: Two ipsilateral hemivertebrae is less common and presents severe growth imbalance caused by the vertebral anomalies. However, there is a paucity of reports regarding to two ipsilateral thoracolumbar hemivertebrae. The purpose of present study is to evaluate the long-term outcomes of the posterior surgical correction of thoraco-lumbar spine deformity caused by two ipsilateral hemivertebrae. METHODS: From 2006 to 2014, a total of 14 consecutive pediatric patients with congenital thoraco-lumbar hemivertebrae were treated by posterior excision of hemivertebrae with short segment fusion. The following parameters were measured: coronal major curvature, cranial and caudal compensatory curvature, segmental kyphosis, lumbar lordosis, trunk shift, apical vertebra translation and sagittal vertical axis. These results were compared and evaluated in preoperatively, immediately postoperatively and at the final follow-up. All patients had a minimum of 5 years follow-up. RESULTS: The mean age at surgery was 11.1 ± 4.8 years (2yos to 17yos). The mean follow-up period was 80.2 ± 19.4 months (60mons to 117mons). There was a mean improvement of 74.2% in the coronal major curve from a mean angle of 64.1° before surgery to 15.8° at the final follow-up. The cranial and caudal curves improved of 69.8 and 69.0% from 25.6° to 7.7°, 26.9 to 8.2, respectively. The mean thoraco-lumbar kyphosis was 59.9° before and 13.6° after surgery, 20.8° at the final follow-up. Alignment in the coronal and sagittal plane was either maintained or improved within normal values in all patients. CONCLUSIONS: Good correction and spinal balance can be achieved by posterior-only hemivertebrectomy in patients with thoracolumbar kyphocsoliosis caused by two ipsilateral hemivertebra. The complication of neurological injury is low but a technically demanding procedure. More attention should be paid in residual curve progression after surgery.

Surgical outcomes following hemivertebrectomy in congenital scoliosis: a systematic review and observational meta-analysis.

BACKGROUND: Hemivertebrectomy is widely used definitive correction surgery in congenital scoliosis due to hemivertebrae. It may be done either as combined anterior and posterior approach or a single-stage posterior approach only. The purpose of this meta-analysis was to compare two techniques with regards to blood loss, operative time, deformity correction and complications. METHODS: The systematic review and meta-analysis were conducted according to PRISMA guidelines among peer-reviewed journals published in English between June 2000 and June 2020. Quality appraisal of all selected articles was done and data extracted. RESULTS: After thorough literature search and excluding, 37 studies were included for review. The commonest location of the hemivertebrae was thoracolumbar spine (51.3%), thoracic (26.2%), lumbar/lumbosacral (21.6%) followed by cervical (0.7%). Pooled data showed a significant difference (p < 0.05) in mean operative time with posterior only approach (227 min, 95% CI 205-250) as compared to Combined Anterior Posterior Approach (CAPA) (316 min 95% CI 291-341). Significant difference (p < 0.05) in mean blood loss was observed in posterior only approach (522 ml, 95% CI 434-611) as compared to CAPA (888 ml, 95% CI 663-1113). No significant difference was noted in mean correction in either of the approaches and overall pooled mean correction rate was 66%, 95% CI 61-72. CONCLUSION: This review and meta-analysis of two surgical techniques of hemivertebrectomy, shows that operative time and blood loss is significantly lower in posterior only approach with no difference in correction rate as compared to CAPA. There was significant correlation between age at surgery and need for revision surgeries. LEVEL OF EVIDENCE: IV.

Lumbar hemivertebra resection in congenital scoliosis utilizing cone-beam navigation: less radiation, more accuracy-proof of concept.

PURPOSE: To present the first known pediatric utilization of cone-beam navigation system (CBNS) for hemivertebra resection and spondylodesis CASE PRESENTATION: A 14-year-old female with congenital scoliosis, diagnosed at 8 years of age, presenting with progressive symptoms, a Cobb angle (L3-5) of 38° at time of surgery, treated historically with conservative measures. Presence of spinal intramedullary disease was excluded prior to operation via whole spine MRI. RESULTS: Patient successfully underwent surgical correction utilizing the CBNS (O-arm™, Medtronic®). Post-operative Cobb angle (L3-5) was restored to 8°. Following four different pediatric patient's radiation exposures (two receiving correction via the O-arm platform and two via the traditional method employing fluoroscopy), we show a reduction in radiation exposure using the CBNS system. CONCLUSION: We present the first known pediatric case of the utilization of the CBNS system for hemivertebra correction. We demonstrate that utilizing the CBNS platform can not only increase surgical accuracy but also decrease pediatric patient's radiation exposure as a preoperative CT scan is not needed. Future studies should continue to explore additional benefits of implementing the system into surgical practice.

Adult Congenital Spine Deformity: Clinical Features and Motivations for Surgical Treatment.

BACKGROUND: There is scarce information available about adult congenital spine deformity (ACSD) in the literature, especially its impact after the pediatric age. The aim was to define ACSD characteristics and to establish the drivers for surgical intervention. METHODS: Cross-sectional study of data collected in an adult deformity multicenter database. Only ACSD patients were included. Demographic and radiographic data, as well as patient-reported outcome measures, were assessed. Conservatively (C) vs surgically (S) treated patients were compared using Student t test, χ², and Mann-Whitney U test. RESULTS: Fifty-two patients were included. They were young adults (x = 37.7 years), mostly female (71%). Among them, 60% had single hemivertebrae (HV), 35% had multiple HV, and 5% had segmentation defects. Also, 75% had mainly coronal deformity (Cobb 62.5° ± 29.6) and 25% had sagittal deformity.Mean Oswestry Disability Index (ODI) was 29.6% ± 17 and mean Scoliosis Research Society 22-item survey (SRS-22) total score was 3.2 ± 0.8. Of note, mean SRS-22 self-image score was 2.8 ± 0.9 and 36-item Short Form Health Survey (SF-36) physical function score was 40.9 ± 11.Thirty patients were treated conservatively (C), whereas 22 patients underwent surgery (S). No differences were found regarding age, type or location of the deformity, comorbidities, or radiographic parameters. Operated patients had worse Core Outcome Measurement Index (COMI) back scores (C: 3.8 ± 2.4 vs S: 6.7 ± 2.4; P = 0.004); worse SRS-22 self-image (C: 3 ± 0.9 vs S: 2.5 ± 0.9; P = 0.047), and SRS-22 total scores (C: 3.4 ± 0.8 vs S: 2.9 ± 0.7; P = 0.01); worse SF-36 physical component summary (C: 43.3 ± 10.8 vs S: 36.7 ± 10.4; P = 0.048); and worse SF-36 physical role, function, and social function. CONCLUSION: Adult congenital deformity patients were mainly female young adults, with formation defects (HV), worried about their image and presenting some degree of functional impairment and pain. These symptoms were the essential drivers for surgery, rather than the radiographic deformity itself. CLINICAL RELEVANCE: One of the few studies describing the characteristics and clinical concerns of patients with congenital spinal deformities. LEVEL OF EVIDENCE: 3.

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.

Congenital scoliosis (CS) is a spinal deformity present at birth due to underlying congenital vertebral malformation (CVM) that occurs during embryonic development. Hemivertebrae is the most common anomaly that causes CS. Recently, compound heterozygosity in TBX6 has been identified in Northern Chinese, Japanese, and European CS patient cohorts, which explains about 7%-10% of the affected population. In this report, we recruited 67 CS patients characterized with hemivertebrae in the Southern Chinese population and investigated the TBX6 variant and risk haplotype. We found that two patients with hemivertebrae in the thoracic spine and one patient with hemivertebrae in the lumbar spine carry the previously defined pathogenic TBX6 compound heterozygous variants. In addition, whole exome sequencing of patients with CS and their family members identified a de novo missense mutation (c.G47T: p.R16L) in another member of the T-box family, TBXT. This rare mutation compromised the binding of TBXT to its target sequence, leading to reduced transcriptional activity, and exhibited dominant-negative effect on wild-type TBXT. Our findings further highlight the importance of T-box family genes in the development of congenital scoliosis.

ß1 Integrin regulates convergent extension in mouse notogenesis, ensures notochord integrity and the morphogenesis of vertebrae and intervertebral discs.

The notochord drives longitudinal growth of the body axis by convergent extension, a highly conserved developmental process that depends on non-canonical Wnt/planar cell polarity (PCP) signaling. However, the role of cell-matrix interactions mediated by integrins in the development of the notochord is unclear. We developed transgenic Cre mice, in which the ß1 integrin gene (Itgb1) is ablated at E8.0 in the notochord only or in the notochord and tail bud. These Itgb1 conditional mutants display misaligned, malformed vertebral bodies, hemi-vertebrae and truncated tails. From early somite stages, the notochord was interrupted and displaced in these mutants. Convergent extension of the notochord was impaired with defective cell movement. Treatment of E7.25 wild-type embryos with anti-ß1 integrin blocking antibodies, to target node pit cells, disrupted asymmetric localization of VANGL2. Our study implicates pivotal roles of ß1 integrin for the establishment of PCP and convergent extension of the developing notochord, its structural integrity and positioning, thereby ensuring development of the nucleus pulposus and the proper alignment of vertebral bodies and intervertebral discs. Failure of this control may contribute to human congenital spine malformations.

Twin pregnancy complicated with congenital Hemivertebra: report of two cases and literature review.

BACKGROUND: Hemivertebra deformity, involving one or multiple vertebral bodies, is one of the important causes of congenital scoliosis. Congenital fetal hemivertebrae could be diagnosed by ultrasonography and confirmed by fetal magnetic resonance imaging during pregnancy. However, reports of hemivertebrae in twins during the perinatal period are very rare. CASE PRESENTATION: We report two cases of congenital fetal hemivertebrae, each affecting one fetus in a dichorionic diamniotic (DCDA) twin pregnancy. We have also conducted a literature review of its prenatal screening, diagnosis, management, and outcomes. These two cases of congenital fetal hemivertebrae in one fetus of a DCDA twin were both initially found by ultrasonography and confirmed by fetal magnetic resonance imaging (MRI). One couple chose selective termination of the hemivertebrae fetus after they were extensively counseled by the multidisciplinary team regarding the treatment and prognosis of the hemivertebrae twin, and a healthy baby weighing 2320 g was delivered at the 37+ 1 gestational week. The other couple decided to continue the twin pregnancy and gave birth to two living newborns weighing 2580 g and 2060 g at 37+ 1 gestational weeks. These three babies were all in good health during follow-up. CONCLUSIONS: Based on our center's experience, comprehensive ultrasonography is necessary for early prenatal diagnosis of this condition. In addition, fetal MRI will confirm the diagnosis of hemivertebrae and provide parents with helpful information for their decision about the fate of the affected fetus.

Precise breakpoint detection in a patient with 9p- syndrome.

We present a case of 9p- syndrome with a complex chromosomal event originally characterized by the classical karyotype approach as 46,XX,der(9)t(9;13)(p23;q13). We used advanced technologies (Bionano Genomics genome imaging and 10× Genomics sequencing) to characterize the location of the translocation and accompanying deletion on Chromosome 9 and duplication on Chromosome 13 with single-nucleotide breakpoint resolution. The translocation breakpoint was at Chr 9:190938 and Chr 13:50850492, the deletion at Chr 9:1-190938, and the duplication at Chr 13:50850492-114364328. We identified genes in the deletion and duplication regions that are known to be associated with this patient's phenotype (e.g., ZIC2 in dysmorphic facial features, FOXD4 in developmental delay, RNASEH2B in developmental delay, and PCDH9 in autism). Our results indicate that clinical genomic assessment of individuals with complex karyotypes can be refined to a single-base-pair resolution when utilizing Bionano and 10× Genomics sequencing. With the 10× Genomics data, we were also able to characterize other variation (e.g., loss of function) throughout the remainder of the patient's genome. Overall, the Bionano and 10× technologies complemented each other and provided important insight into our patient with 9p- syndrome. Altogether, these results indicate that newer technologies can identify precise genomic variants associated with unique patient phenotypes that permit discovery of novel genotype-phenotype correlations and therapeutic strategies.

[Ineffective treatment technique of convex epiphysiodesis for congenital scoliosis].

OBJECTIVE: To discuss the long-term outcome of convex epiphysiodesis in the treatment for congenital scoliosis (CS). METHODS: The clinical data of 22 patients with hemivertebral deformity undergoing convex epiphysiodesis from the October 1998 to Febuary 2008 were respectively analyzed. There were 12 males and 10 females. The whole spine anteroposterior radiographs were taken preoperatively, at 3-month postoperatively and at the final follow-up to measure the main curve and the compensatory curve. The progression rate was calculated for each patient. Observing the correlation between the progression rate and annual progression of the scoliosis and age, gender, hemivertebral number, hemivertebral position, preoperative main curve Cobb angle and compensatory curve Cobb angle, comparing different ages, genders, hemivertebral number and position, and preoperative main curve Cobb angle on the progression of postoperative curve. RESULTS: The mean Cobb angle of main curve changed from (40.5±9.8) ° before surgery to (39.5±11.1) ° at 3 months after surgery, which significantly increased to (46.8±13.9) ° in the final follow-up. Meanwhile the mean Cobb angle of compensatory curve was changed from (20.1±10.8) ° before surgery to (23.0±11.1) °, which significantly increased to (29.9±11.5) ° in the final follow-up. There were no significant differences in the Cobb angle of the main curve and the compensatory curve between postoperative 3 months and before operation (P>0.05). The difference between the final follow-up and the preoperative, postoperative 3 months was statistically significant (P<0.01). Twenty patients experienced progression of both main curve and compensatory curve, with a mean progression rate of (19.2±17.9)% for main curve and (39.6±37.0)% for compensatory curve. The annual progression volume was (1.5± 1.4) ° for main curve and (1.4±1.3) ° for compensatory curve. Three patients underwent lateral convex orthopedic internal fixation due to postoperative scoliosis progression. The curve progression was significantly correlated with age at the time of surgery and hemivertebral number. There was a significant correlation between the age of the operation, the main curve angle, the preoperative compensatory curve angle and the annual progression volume of the main curve (P<0.05). CONCLUSION: The convex epiphysiodesis technique cannot effectively prevent curve progression of CS patients in the long-term follow-up. It is not recommended to apply this technique to the treatment of patients with congenital hemivertebrae.

Posterior-only lumbosacral hemivertebrae resection and fusion in paediatric scoliosis with minimum two year follow-up.

PURPOSE: To evaluate the clinical and radiological outcomes for patients who undergone posterior-only lumbosacral hemivertebrectomy with short fusion with minimum two year follow-up. METHODS: From 2005 to 2016, a consecutive series of 16 paediatrics scoliosis due to lumbosacral hemivertebrae were included in this study. They were treated by one stage posterior hemivertebrae resection with bilateral or unilateral short fusion. Coronal and sagittal parameters and pelvic obliquity were measured at pre-operatively, immediate post-operatively and at final follow-up. The outcome and efficacy of the correction were investigated. RESULTS: The mean age was 10.4 ± 3.4 years (3-15 years). The mean follow-up period was 38.8 ± 16.2 months (24-79 months). The mean segmental scoliosis was 35.4 ± 9.2 and 7.7 ± 5.4 pre-operatively and post-operatively (78.4% correction rate) and 8.2 ± 5.0 (77%) at the latest follow-up. The compensatory coronal curve of 28.6 ± 16.1 was spontaneously corrected to 8.0 ± 8.4 in post-operatively 12.0 ± 8.4 at final follow-up. Trunk shift was significantly improved on both coronal (RTS 86.1%) and sagittal plane (68.7%) after the surgery and kept stable during the follow-up. Sacral tilt of 14.2 ± 5.3 was significantly improved to 4.7 ± 3.6 at final follow-up. There was no significant difference between bilateral and unilateral instrumentation groups (P > 0.05). One case had implants failure, and the incidence rate is 6.3%. CONCLUSIONS: Early posterior hemivertebrectomy with short fusion is effective in the treatment of lumbosacral hemivertebrae. It can achieve good coronal curve correction, sacral tilt, and trunk shift improvement. No neurological complications were found. Importantly, it can prevent secondary structural deformities and potentially save fusion level.

Pediatric cervical Hemivertebrae - A Rare Case Presentation in a 3-Year-Old Child.

INTRODUCTION: Hemi vertebrae are very rarely seen at a cervical level which results in kyphotic deformity without coronal tilt. Vertebral formation defects have been the basis of congenital kyphoscoliosis deformity in the pediatric age group. Cervical spine kyphosis more than 10° along with kinking of cord at a single level results in neurodeficits which require urgent management on the lines of decompression, realignment, and bony fusion to prevent recurrence and failure and to achieve superior outcomes. However, in pediatric age group, spine surgeons face a lot challenges with respect to surgical anatomy, body landmarks, and bone anchors. CASE REPORT: A 3-year-old male patient presented to the outpatient department with complain of progressive bilateral upper and lower limb weakness and progressive deformity of the cervical spine which increased in the past 2 months. The patient earlier used to walk with support. However, for 2 months, there was progressive decrease in motor function. The clinical course, radiologic features, pathology, and treatment outcome of the patient were documented. C3 hemivertebrectomy and stabilization from C2 to C4 with fibular strut grafting and anterior cervical plating were done under neuromonitoring guidance. The neurologic symptoms of the patient were markedly improved after surgery. CONCLUSION: We have reported the first case of the management of pediatric cervical spine hemivertebrae with neurodeficit in a 3-year-old child, with anterior hemivertebrectomy, strut grafting, and plating which improved the patient neurologically and functionally.

Comparing the Treatment of Congenital Spine Deformity Using Freehand Techniques In Vivo and 3D-Printed Templates In Vitro (Prospective-Retrospective Single-Center Analytical Single-Cohort Study).

INTRODUCTION: Hemivertebrae excision with local posterior instrumentation is the most common technique for treatment of patients with congenital spine deformity-it is performed at a very young age. We conducted a comparative analysis for accuracy of pedicle screw positioning in infants with congenital scoliosis of the thoracolumbar area inserted using freehand technique in vivo and 3D-printed guiding templates in vitro. METHODS: The study analyzes the results of 10 surgically treated patients with congenital deformity of the thoracolumbar spine due to vertebrae failure of formation. These patients were included in group 1 (in vivo) comprising six boys and four girls with a mean age of 3 years 8 months (2 years 2 months-6 years 8 month). Group 2 (in vitro) consisted of 27 plastic 3D-printed models of congenitally deformed spine of the same 10 patients in which screws were placed using 3D-printed guiding templates. The accuracy of screw position was assessed using computer tomography data performed postoperatively with Gertzbein-Robbins classification. RESULTS: Results of our study show that screw insertion using 3D-printed guiding templates during surgical treatment of infants with congenital spine deformities is more accurate than using freehand technique (96.3% vs. 78.8% p = 0.011). CONCLUSION: The data show that this method of screw insertion is very promising and can be used in surgical treatment of infants with congenital spine deformities.