Radiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.

Caudal regression syndrome (CRS) is a rare genetic disorder affecting less than 0.1%-0.5% of newborns that manifests as the total or partial absence of lower vertebral structures including the sacral spine. The etiology of CRS remains elusive, but there is compelling evidence supporting a genetic predisposition and a correlation with maternal diabetes. This study presents the case of a 7-year-old girl exhibiting symptoms consistent with CRS including lower limb deficits, abnormal gait, urinary incontinence, and scoliosis. The findings from an MRI scan revealed notable anomalies such as hemivertebra in the dorsal spine, renal deformities, and the absence of secondary neurulation elements in the spine. We chose to delay the hemivertebra surgery because the scoliosis was not highly pronounced. Rather, we directed the child to the urology department for the management of her kidney deformities. This case contributes to the understanding of CRS and underscores the importance of comprehensive diagnostic approaches in elucidating its complex manifestations.

Sprengel's Deformity: A Paediatric Case Report.

Sprengel's deformity is a conspicuous anomaly, affecting one or both scapulas. The congenital elevation of the scapula is frequently accompanied by additional anomalies, such as rib, vertebral, or muscular deformities, among which are rib fusion or vertebral deformity. Defects in the cervical vertebrae are most likely to result in Klippel-Feil syndrome, which is characterised by a short neck, restrictions on head mobility, and low-growing neck hair. Fewer than half of the instances had scoliosis, which is compensatory due to efforts to straighten the spine. The present case report was the case of Sprengel's deformity reported to our department.

Vertebral and spinal malformations in small brachycephalic dog breeds: Current knowledge and remaining questions.

Small brachycephalic dog breeds, such as the French bulldog, English bulldog and pug have become increasingly popular. These breeds are predisposed to a variety of vertebral and spinal malformations, including hemivertebra, caudal articular process dysplasia, transitional vertebra, cranial thoracic vertebral canal stenosis, spinal arachnoid diverticulum and meningeal fibrosis. Recent studies have provided new insights into the prevalence, anatomical characteristics, pathophysiology and treatment of these conditions. Thoracic hemivertebra, caudal articular process dysplasia, transitional vertebra, and cranial thoracic vertebral canal stenosis occur commonly in neurologically normal dogs. Although the clinical relevance of these vertebral anomalies has therefore been questioned, severe kyphosis and hemivertebra in pugs have been associated with an increased likelihood of neurological signs. Meningeal fibrosis is characterised by the formation of dense intradural fibrotic adhesions, constricting the spinal cord. This condition has been heavily associated with the pug breed. It is in pugs further common to observe multiple concurrent spinal disorder in association with chronic progressive pelvic limb gait abnormalities. This clinical presentation has been referred to as 'pug dog thoracolumbar myelopathy' and potential genetic risk factors have recently been identified. Despite our increased knowledge, many questions remain currently unanswered. This review discusses our current understanding and controversies surrounding vertebral and spinal malformations in small brachycephalic dog breeds.

Morphological analysis of isolated hemivertebra: radiographic manifestations related to the severity of congenital scoliosis.

PURPOSE: The natural history of congenital scoliosis (CS) caused by hemivertebra varies greatly. This study aimed to explore the association between the morphology of hemivertebra and the severity of CS, since the diagnosis of the hemivertebra. METHODS: Patients with isolated (single fully segmented) hemivertebra were enrolled. The degree and progression of deformity were compared by three morphological parameters of hemivertebra, comprising whether the width of hemivertebra extends across the central vertical line of lower adjacent vertebra (midline); the lateral height ratio (LHR, lateral height of hemivertebra× 2/(lateral height of HV-1 plus HV + 1) with the cut-point being 0.9; and the sagittal position of hemivertebra that was divided into the lateral and posterolateral group. RESULTS: In total, 156 patients (mean age 9.7 ± 6.2 years, 81 males) were enrolled. The number of thoracic, thoracolumbar (T12/13-L1), and lumbar hemivertebrae were 63, 41, and 52, respectively. Hemivertebrae across the midline had larger scoliosis and kyphosis (58.3 ± 20.6° vs. 42.8 ± 15.0°, P <  0.001; 45.1 ± 32.5° vs. 29.5 ± 25.7°, P = 0.013, respectively). Hemivertebrae with LHR ≥0.9 was associated with larger scoliosis (55.7 ± 20.6° vs. 41.4 ± 13.3°, P <  0.001). Larger scoliosis and kyphosis were observed in posterolateral hemivertebrae (54.4 ± 21.0° vs. 44.4 ± 15.6°, P = 0.026; 51.4 ± 31.5° vs. 20.6 ± 17.1°, P <  0.001, respectively). Co-occurrence of more than one of the three positive parameters above indicated higher annual progression (5.0 ± 2.2° vs. 3.3 ± 1.3°, P <  0.001). CONCLUSION: Three positive parameters, width across the midline, LHR ≥0.9, and posterolateral position were associated with a more severe deformity in patients with isolated hemivertebra. Hemivertebrae with more than one positive parameter may cause progressive deformity, and thus need prompt surgery. LEVEL OF EVIDENCE: Prognostic, level IV.

Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.

Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel-Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps.

Surgical technique for one-stage posterior hemivertebrectomy.

One-stage posterior hemivertebrectomy is a safe and effective technique as long as the surgical team is well prepared and has the appropriate instrumentation. All available means must be used to minimize intraoperative blood loss. The various surgical steps are completed while following various precautionary measures. Lastly, the surgical team must be able to manage certain intraoperative hazards. LEVEL OF EVIDENCE: IV.

[Surgical treatment of congenital scoliosis]. / Operative Therapie der kongenitalen Skoliosen.

OBJECTIVE: Early correction of congenital scoliosis including short fusion, while minimizing both mobility restrictions and growth impairment. INDICATIONS: Congenital scoliosis with marked deformity, proven progression, significant compensatory curves, and/or impairment of trunk balance. Furthermore, in case of compression of neural structures or pain due to secondary degeneration. CONTRAINDICATIONS: No absolute contraindication. SURGICAL TECHNIQUE: Posterior approach to the apex of the deformity. In the growing spine the periosteum should only be touched at the levels where fusion is planned. Insertion of pedicle screws adjacent to the hemivertebra. The posterior elements of the hemivertebra are removed: lamina, joint facets, pedicle, transverse process. Resection of the accessory proximal rib in the thoracic spine. Following blunt dissection at the lateral and anterior surface of the hemivertebra, the body of the hemivertebra and the adjacent discs are resected. The resulting gap is closed by compression via transpedicular instrumentation thus correcting the scoliotic deformity. In case of synostosis or contralateral bar formation, the concave side of the spine is dissected and the synostosis osteomized. POSTOPERATIVE MANAGEMENT: Early mobilization on postoperative day 1. Bracing for 12 weeks depending on stability of the instrumentation. Periodic clinical and radiographic controls until the end of growth. RESULTS: Posterior hemivertebra resection with transpedicular instrumentation is considered as the standard treatment of congenital scoliosis. Correction rates of 60-80% are achieved. Cervical and lumbosacral hemivertebrae may require an additional anterior approach. In case of synostosis, bar formation, or rib synostosis, further corrective surgeries may be necessary during growth.

Analysis of the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebrae resection and orthosis fusion.

BACKGROUND: To analyze the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebra resection, orthosis, fusion and internal fixation. METHODS: Thirty-nine patients with congenital scoliosis (CS) who underwent one-stage posterior hemivertebra resection, orthosis, fusion and internal fixation were retrospectively included in Hebei Children's Hospital General demographic information of patients was collected. Preoperative and postoperative imaging indicators were compared, Including cobb Angle of the main curvature of the spine, segmental Cobb Angle, compensatory cephalic curve, compensatory curve on the caudal side, segmental kyphosis, coronal balance, sagittal balance, thoracic kyphosis, lumbar lordosis, and apical vertebra translation. Correlation analysis is used to evaluate the factors affecting the loss of judgment and correction effect, and the correlation indicators are included in the multi-factor Logistics regression. RESULTS: In terms of radiographic indicators in the coronal plane, compared to preoperative values, significant improvements were observed in postoperative Cobb Angle of main curve (8.00°±4.62° vs. 33.30°±9.86°), Segmental Cobb angle (11.87°±6.55° vs. 31.29°±10.03°), Compensatory cephalic curve (6.22°±6.33° vs. 14.75°±12.50°), Compensatory curve on the caudal side (5.58°±3.43° vs. 12.61°±8.72°), coronal balance (10.95 mm ± 8.65 mm vs. 13.52 mm ± 11.03 mm), and apical vertebra translation (5.96 mm ± 5.07 mm vs. 16.55 mm ± 8.39 mm) (all P < 0.05). In the sagittal plane, significant improvements were observed in Segmental kyposis Angle (7.60°±9.36° vs. 21.89°±14.62°, P < 0.05) as compared to preoperative values. At the last follow-up, Segmental kyphosis Angle (6.09°±9.75° vs. 21.89°±14.62°, P < 0.05), Thoracic kyphosis (26.57°±7.68° vs. 24.06°±10.49°, P < 0.05) and Lumbar lordosis (32.12°±13.15° vs. 27.84°±16.68°, P < 0.05) had statistical significance compared with the preoperative department. The correlation analysis showed that the correction effect of the main curve Cobb angle was correlated with fixed segment length (rs=-0.318, P = 0.048), postoperative segment Cobb angle (rs=-0.600, P < 0.001), preoperative apical vertebra translation (rs = 0.440, P = 0.005), and spinal cord malformation (rs=-0.437, P = 0.005). The correction effect of segmental kyphosis was correlated with age (rs = 0.388, P = 0.037). The results of the multivariate logistic regression analysis revealed that postoperative segmental Cobb angle > 10° (OR = 0.011, 95%CI:0.001-0.234, P = 0.004), associated spinal cord anomalies (OR = 24.369, 95%CI:1.057-561.793, P = 0.046), and preoperative apical translation > 10 mm (OR = 0.012, 95%CI:0.000-0.438, P = 0.016) were influential factors in the progression of the main curve Cobb angle. CONCLUSION: The one-stage posterior hemivertebra resection and short-segment corrective fusion with internal fixation are effective means to treat congenital scoliosis. However, attention should be paid to the loss of correction and curve progression during follow-up. Patients with spinal cord malformation and a large preoperative apical vertebra translation have a greater risk of losing the correction after surgery.

Congenital lumbosacral junction kyphosis in an adult patient: A case report.

Rare lumbosacral junction kyphosis due to S1-S2 hemivertebra in a 40-year-old woman was managed surgically, improving neurological disturbances, and low back pain. Early intervention is vital for congenital anomalies.

Hemivertebra resection after age three produces the similar results but with less complications compared to earlier surgery: a minimum of 5-year follow-up.

BACKGROUND: The optimal timing for hemivertebra resection remains controversial. Early intervention before 3 years of age seems being able to get better correction with less fusion segments. However, it was also reported that early surgery may be associated with more complications. The purpose of this study is to investigate correction outcomes and complications of delayed hemivertebra resection (between 3 and 5 years of age), in comparison with earlier surgery (before 3 years of age). METHODS: Patients who had undergone thoracolumbar hemivertebra resection at a single level before 5 years of age and had more than 5 years of follow-up were reviewed. Twenty-four patients had hemivertebra resection surgery below 3 years of age (early surgery, Group E), and 33 patients received surgery between 3 and 5 years of age (delayed surgery, Group D). Radiographs from preoperative, immediately postoperative, and the latest follow-up visits were reviewed to investigate the correction outcomes. Complications were recorded and compared between these two groups. RESULTS: The patients of Group E had shorter operation time and less blood loss than those of Group D (P = 0.003 and P = 0.006). Notably, the fusion segments were 2.3 ± 0.7 and 3.1 ± 1.2 in group E and group D (P = 0.005), respectively, indicating group E averagely saved 0.8 motion segments. At the time of surgery, group E had smaller main curve magnitude either in the coronal or in the sagittal plane than group D and experienced similar correction rates of scoliosis (83.3 ± 21.6% vs. 81.2 ± 20.1%, P = 0.707) and kyphosis (65.1 ± 23.8% vs. 71.7 ± 24.9%, P = 0.319). However, group E had relatively higher complication rates than group D and relatively greater correction loss in either coronal or sagittal plane during follow-up. CONCLUSIONS: Hemivertebra resection resulted in similar correction results in both age groups. However, the rate of complications was lower for Group D than Group E. Thus, for non-kyphotic hemivertebra, surgery may be delayed till 3 to 5 years of age.

Circumferential Approach to Congenital Kyphoscoliosis with Hemivertebra: Adding on Rather than Resecting Could Be a Better Option in Older Adolescents.

OBJECTIVE: To present a new technique combining anterior release with allograft insertion and lateral fixation at the concave side of the curve, preserving the hemivertebra and posterior bilateral transpedicular fixation in patients with congenital kyphoscoliosis (CKS) who were not operated on until late adolescence, including long-term follow-up of patients, and a discussion of the literature on CKS with hemivertebra. METHODS: Two patients with CKS concomitant with hemivertebra underwent circumferential (anterior-posterior) instrumentation and fusion using a new technique. RESULTS: Patient 1 underwent a 2-stage operation, first anterior then posterior. Patient 2 was operated on circumferentially in 1 session. Both patients had >10 years of follow-up showing solid fusion of their operated spine segments. The patients were pain-free, and their body heights were comparable to healthy peers. CONCLUSIONS: In our circumferential approach, we successfully integrated the hemivertebrae in anterior fusions rather than resecting them in older adolescents with CKS. This technique decreased bleeding, shortened operative time, and promised potential benefits compared with the available techniques in the literature.

The incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis.

BACKGROUND: Congenital scoliosis(CS) is associated with multiple organs defect, and cardiac abnormalities have been reported commonly associated with CS. Hemivertebra is caused by the failure of vertebral formation, which is a major constitute of CS. Till now, few studies focus on the incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis. We aimed to analyze the cardiac defect in CS patients with or without hemivertebra, and further explore the incidence of cardiac defect between different types of hemivertebra. METHODS: The ultrasonic cardiography (UCG) results of surgically treated congenital scoliosis (CS) patients between 2015 and 2018 were retrospectively analyzed. Patients were divided into hemivertebra group and non-hemivertebra group according to preoperative CT. Patients with hemivertebra was further divided into sub-group by single/multiple or fully/partially/mixed segmented hemivertebra. Demographic information, radiographic data and cardiac abnormalities were statistically compared between groups. RESULTS: A total of 329 patients were analyzed, including 216 patients with hemivertebra and 113 patients without hemivertebra. UCG results were abnormal in 89 cases (27.1%), including 41 males(12.5%) and 48 females(14.6%). Hemivertebra group had comparable incidence of cardiac abnormalities with non-hemivertebra group (p = 0.517). No significant difference in the incidence of UCG abnormalities between single and multiple hemivertebra group (P = 0.246). Binary logistic regression analysis showed that female sex with multiple hemivertebra was a risk factor for abnormal UCG (P = 0.009, OR = 3.449). Cardiac abnormalities was comparable among fully, partially and mixed segmented hemivertebra group(P = 0.264). In abnormal UCG, 33 patients with hemivertebra had non-valvular abnormalities, and 48.5% (16/33) were septal defects. 28 patients had valvular abnormalities, most of them were mitral valve abnormalities, especially mitral valve redundancy, prolapse and insufficiency(82.1%, 23/28). No significant difference between the incidence of non-valvular and valvular abnormalities in patients with hemivertebra (P = 0.581). CONCLUSIONS: The incidence of abnormal UCG results was approximately 28.2% in CS patients with hemivertebra. Female patients with multiple hemivertebra had a higher risk of UCG abnormalities. Mitral valve abnormalities were the most common abnormality of UCG found in CS patients with hemivertebra. TRIAL REGISTRATION: retrospectively registered.

Minimally invasive spine surgery strategy for congenital cervicothoracic scoliosis in children: Less blood loss and shortened segmental fusions/fewer pedical screws.

Objective: To explore the feasibility of a minimally invasive spine surgery strategy for congenital cervicothoracic scoliosis. Materials and methods: From April 2022 to August 2022 in the hospital, three patients with torticollis and/or shoulder imbalance due to a cervicothoracic hemivertebra were performed on by hemivertebra resection and short fusion of the adjacent vertebrae. Resection was operated by a posterior approach. The average age of three patients of surgery was 8 years 2 months and the mean follow-up period was 6 months. Radiographic assessments and cosmetic outcomes were documented on changes in measurements of segmental scoliosis, neck tilt, head shift, shoulder balance, and sagittal profiles. Results: The mean operating time of the procedure was 283 min and the instrumentation density was 1.5 pedicle screws per vertebra. The mean estimated blood loss was 257 ml, which was 20% less than the data described in various literatures. The mean segmental Cobb angle at the cervicothoracic deformity was 35.9° before surgery, 20.7° after surgery, and 16.3° at the latest follow-up, with a correction rate of 54.59%. Neck tilt decreased from 17.3° before surgery to 14.3° after surgery, and 11.7° at the latest follow-up, with a correction rate of 32.37%. T1 tilt improved from 16.5° before surgery to 12.9° after surgery, and 7.6° at the latest follow-up, with a correction rate of 53.94%. The clavicle angle improved from 4.8° before surgery to 3.1° after surgery, and 1.9° at the latest follow-up, with a correction rate of 60.42%. Head shift improved from 21.4 mm before surgery to 9.2 mm after surgery, and 12.3 mm at the latest follow-up, with a correction rate of 42.52%. The correction of torticollis and shoulder asymmetry was achieved in all cases. Conclusions: Minimally invasive spine surgery strategy may be an option for congenital cervicothoracic scoliosis. A good correction of cervicothoracic dissymmetry is achieved, accompanied by fewer pedicle screws and less blood loss. By deliberate operation in young kids, surgical intervention for severe compensatory curves can be prevented.

A novel classification of subaxial cervical hemivertebrae and associated surgical management.

Objective: To propose and validate a new classification of surgical methods for patients with subaxial cervical hemivertebrae. Method: This article reviewed cases diagnosed with subaxial cervical hemivertebrae in our hospital from January 2008 to December 2019. The results of preoperative (initial visit), postoperative and/or final follow-up were assessed using the Japanese Orthopaedic Association (JOA) score, Neck Disability Index (NDI) score, spinal balance parameters, and Scoliosis Research Society-22 Questionnaire (SRS-22). We also performed a reliability study to assess this classification. Result: The classification includes three types. Each type can be divided into two subtypes, and a preliminary algorithm is proposed. Type I: There is an obvious appearance deformity in the neck, there are hemivertebrae in the cervical spine, and only a single hemivertebra of the subaxial cervical hemivertebra needs to be resected. Type II: There is an obvious appearance deformity in the neck, there are hemivertebrae in the cervical spine, and multiple subaxial cervical hemivertebrae need to be removed. Type III: No apparent deformity in the neck, at least one subaxial cervical hemivertebra existed or Klipper-Feil syndrome. Each type is divided into two subtypes, A and B, according to whether the upper and lower adjacent vertebral bodies of the rescected hemivertebra(e) are fused. We propose corresponding treatment methods for different types. We included a total of 121 patients and reviewed the prognosis for each type of patient. All patients achieved satisfactory results. The reliability study showed that the mean interobserver agreement was 91.8% (89.3%-93.4%), and the κ value was 0.845 (0.800-0.875). The intraobserver agreement ranged from 93.4% to 97.5%, with a mean κ value of 0.929 (0.881 to 0.954). Conclusion: In our study, we proposed and validated a new classification of subaxial cervical hemivertebrae and proposed corresponding treatment plans for different classifications.

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.

Resection of cervical hemivertebra with occipitocervical - fusion: report on two torticollis cases and literature review.

The objective of this study is to present the two cases of cervical hemivertebra and torticollis, and To describe technique and result of cervical hemivertebra resection and torticollis correction via a anterior-posterior surgical approach and occipitocervical fusion. Cervical hemivertebra, accompanied by abipartite atlas, agenesis of odontoid and C2 segmental type of vertebral artery (VA), is a rare, but complex congenital anomalies, associated with cervical scoliosis and occipitocervical instability. To the best of our knowledge, this is the first report on such congenital anomaly and deformity correction via anterior-posterior hemivertebra resection with occipitocervical fusion. Two patients were presented with torticollis due to congenital cervical hemivertebra accompanied by abipartite atlas, agenesis of odontoid and C2 segmental type of VA. Deformity correction was executed by an anterior-posterior hemivertebra resection and occipitocervical fusion with segment instrumentation. The treatment course was uneventful and clinical outcomes was favorable. The radiographs showed a satisfactory deformity correction with a well-balanced coronal and sagittal alignment. Hemivertebra resection with occipitocervical fusion could correct torticollis with satisfactory clinical and radiographical outcome.

Coexistence of proboscis lateralis and multiple craniofacial, neurological, cardiac and spinal deformities: a one-of-a-kind case report.

BACKGROUND: Proboscis lateralis (PL) is an uncommon congenital facial deformity marked by the protrusion of a primitive tubular structure made up of skin and soft tissue that generally emerges from the eye's medial canthus and is associated with some craniofacial deformities. We report the first case of PL with multiple craniofacial, neurological, cardiac, and spinal anomalies. CASE PRESENTATION: A full-term female baby delivered by cesarean section cried immediately at birth. The mother reported having a normal pregnancy but has a history of x-ray during her first trimester. The baby was born with a rare presentation of proboscis lateralis which was accompanied by multiple anomalies, including but not limited to bilateral colpocephaly, corpus callosum agenesis, complex cyanotic congenital heart disease, and hemivertebra of the T10 body. CONCLUSION: PL is an uncommon congenital condition that causes a variety of craniofacial abnormalities. Multiple additional defects affecting various organ systems should also be evaluated in a person diagnosed with PL.

C2 semisegmented hemivertebra - a rare anomaly presenting with torticollis.

BACKGROUND: Cervical hemivertebrae are extremely rare anomalies which usually present with restriction of neck movements and torticollis in childhood. Hemivertebrae within the craniovertebral junction have only been reported once previously in the literature. We report a case of semisegmented C2 vertebra presenting in a young adult with cervical pain and torticollis with no other associated anomalies. CASE DESCRIPTION: A 21-year-old lady presented with a history of neck pain for the past 10 days and longstanding torticollis with head tilt to the left. Computed tomographic scan of the cervical spine revealed a semisegmented hemivertebra located laterally between the C1 lateral mass and C2 on the right side which was not associated with any other bony anomalies, scoliosis or atlantoaxial dislocation. Conservative treatment with physical therapy was the chosen therapeutic strategy. CONCLUSION: Hemivertebrae within the craniovertebral junction are exceedingly rare anomalies which may present with pain and deformity in childhood and are an important cause of congenital torticollis which may be associated with other spinal, craniofacial, cardiac or renal anomalies.

Double spinal cord tethering and congenital kyphosis in a 4-year-old boy.

PURPOSE: Congenital kyphosis (CK) is an uncommon condition that develops due to a defect of formation or segmentation of one or more vertebrae during the first weeks of embryonic life and can be frequently associated with abnormalities of the spinal cord. Meningocele manqué (MM) is a rare congenital malformation consisting of intradural fibrous bands tethering the spinal cord, oftentimes in combination with a split cord malformation. The aim of this manuscript is to describe combined surgical management of a rare case of CK associated with double spinal cord tethering. STUDY DESIGN: Case report. METHODS: We report the case of a 4-year-old boy presenting with a combination of congenital kyphosis due to L2 fully segmented posterior hemivertebra and double spinal cord tethering, at the level of the filum terminale and at L1-L2 due to an intradural ventral fibrous band. RESULTS: Spinal cord detethering and L2 hemivertebra resection with kyphosis correction were achieved with a single stage procedure. Segmental kyphosis was corrected from 45° to 11° post-operatively. Apart from a transitory sensory impairment, no immediate or delayed complications were noted and, at 2 years follow-up, correction and spinal alignment were stable. CONCLUSION: To the best of our knowledge, this is the first case to report the simultaneous occurrence of congenital kyphosis and double spinal cord tethering due to MM and tethering of the filum terminale. Our case report shows that surgical correction of the deformity and spinal cord detethering can be safely and effectively achieved during the same surgical procedure.

Hemivertebra Resection in Small Children. A Literature Review.

STUDY DESIGN: Systematic review. OBJECTIVE: To evaluate the lowest possible age to resect an HV in very young patients with a congenital deformity. METHODS: We sought to retrieve all studies reporting age at HV excision in patients with congenital scoliosis. Studies written in English were included. No publication date restrictions were imposed. A search of the PubMed and LiLacs databases was conducted. Additionally, a hand search was performed to supplement the database search. RESULTS: We found 140 articles. Twenty two studies were included into the final assessment. There was considerable heterogeneity in the included studies, both regarding age and the surgical techniques used. There was also a broad spectrum of recommendations regarding suggested age for treatment. The youngest patient undergoing resection and fusion was 3 months of life at the time of surgery. CONCLUSION: How young a patient could and should be submitted to HV resection surgery is still a matter of debate in the literature. Prophylactic surgery might be a proper treatment for young children with congenital scoliosis before malformation becomes a deformity, adding no additional neurological, vascular, or anesthesia-related complications. The defect can be treated early while the deformity is treated late.