Efficacy and safety of halo-gravity traction in the treatment of spinal deformities: A systematic review of the literature / Eficacia y seguridad de la tracción de halo-gravedad en el tratamiento de las deformidades de columna: una revisión sistemática de la literatura

Objective: To determine, through a systematic review, the effects of halo gravity traction in spinal deformity. Methods: Prospective studies or case series of patients with scoliosis or kyphosis treated with cranial halo gravity traction (HGT) were included. Radiological outcomes were measured in the sagittal and/or coronal planes. Pulmonary function was also assessed. Perioperative complications were also collected. Results: Thirteen studies were included. Congenital etiology was the most frequent etiology observed. Most studies provided clinically relevant curve correction values in the sagittal and coronal planes. Pulmonary values improved significantly after the use of HGT. Finally, there were a pool of 83 complications in 356 patients (23.3%). The most frequent complications were screw infection (38 cases). Conclusions: Preoperative HGT appears to be a safe and effective intervention for deformity that allows correction prior to surgery. However, there is a lack of homogeneity in the published studies.(AU)

Objetivo: Determinar, mediante una revisión sistemática, los efectos de la tracción de halo-gravedad (HGT) en las deformidades de columna. Métodos: Se incluyeron estudios prospectivos o series de casos de pacientes con escoliosis o cifosis tratados con HGT. Los resultados radiológicos se midieron en los planos sagital y/o coronal. También se evaluó la función pulmonar. Finalmente, se recogieron las complicaciones perioperatorias. Resultados: Se incluyeron 13 estudios. La etiología congénita fue la más frecuente. La mayoría de los estudios proporcionaron valores de corrección de la curva clínicamente relevantes en los planos sagital y coronal. Los valores pulmonares mejoraron significativamente tras el uso de HGT. Por último, existieron 83 complicaciones en 356 pacientes, siendo la infección la más frecuente (38 casos). Conclusiones: La HGT mostró ser una intervención segura y eficaz para la deformidad, que permite la corrección antes de la cirugía. Sin embargo, existe una falta de homogeneidad en los estudios publicados.(AU)

[Artículo traducido] Eficacia y seguridad de la tracción de halo-gravedad en el tratamiento de las deformidades de columna: una revisión sistemática de la literatura / Efficacy and safety of halo-gravity traction in the treatment of spinal deformities: A systematic review of the literature

Objective: To determine, through a systematic review, the effects of halo gravity traction in spinal deformity. Methods: Prospective studies or case series of patients with scoliosis or kyphosis treated with cranial halo gravity traction (HGT) were included. Radiological outcomes were measured in the sagittal and/or coronal planes. Pulmonary function was also assessed. Perioperative complications were also collected. Results: Thirteen studies were included. Congenital etiology was the most frequent etiology observed. Most studies provided clinically relevant curve correction values in the sagittal and coronal planes. Pulmonary values improved significantly after the use of HGT. Finally, there were a pool of 83 complications in 356 patients (23.3%). The most frequent complications were screw infection (38 cases). Conclusions: Preoperative HGT appears to be a safe and effective intervention for deformity that allows correction prior to surgery. However, there is a lack of homogeneity in the published studies.(AU)

Objetivo: Determinar, mediante una revisión sistemática, los efectos de la tracción de halo-gravedad (HGT) en las deformidades de columna. Métodos: Se incluyeron estudios prospectivos o series de casos de pacientes con escoliosis o cifosis tratados con HGT. Los resultados radiológicos se midieron en los planos sagital y/o coronal. También se evaluó la función pulmonar. Finalmente, se recogieron las complicaciones perioperatorias. Resultados: Se incluyeron 13 estudios. La etiología congénita fue la más frecuente. La mayoría de los estudios proporcionaron valores de corrección de la curva clínicamente relevantes en los planos sagital y coronal. Los valores pulmonares mejoraron significativamente tras el uso de HGT. Por último, existieron 83 complicaciones en 356 pacientes, siendo la infección la más frecuente (38 casos). Conclusiones: La HGT mostró ser una intervención segura y eficaz para la deformidad, que permite la corrección antes de la cirugía. Sin embargo, existe una falta de homogeneidad en los estudios publicados.(AU)

[Intraosseous cavernous hemangioma of the middle turbinate. Clinical cases]. / Vnutrikostnaya kavernoznaya gemangioma srednei nosovoi rakoviny. Klinicheskie sluchai.

Intraosseous vascular pathology of the turbinates is extremely rare in the practice of an otorhinolaryngologist and can be presented in various histopathological variants. The article presents two clinical cases in which an intraosseous cavernous hemangioma was hidden under the mask of a hypertrophied middle turbinate. The final diagnosis was established by the results of histological examination. The analysis of these clinical cases indicates that, despite the low prevalence, atypical clinical and CT picture, intraosseous formations of the nasal cavity can be of a vascular nature and certainly require a comprehensive examination, including CT, CT with contrast and/or MRI of the nose and paranasal sinuses. These clinical observations indicate that preliminary embolization of feeding vessels before surgical treatment is not required.

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

PURPOSE: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology. METHODS: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities. RESULTS: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17). CONCLUSION: The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

Bovine Aortic Arch with an Aberrant Left Vertebral Artery in a 3-Year-Old Boy with VACTERL Association: A Case Report.

BACKGROUND The VACTEREL association is an acronym that includes vertebral malformations (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TE), renal defects (R), and limb malformations (L). The aortic arch is the section between the ascending aorta and the descending aorta, where some variants have been described, such as the right aortic arch and bovine aortic arch, among others. A rare presentation in the Natsis classification is the "type X" where a bovine aortic arch and anomalous origin of the left vertebral artery are present. Several structural cardiac malformations have been described in the VACTEREL association. Still, there is no bovine arch or an anomalous left vertebral artery. CASE REPORT Our patient was a 3-year-old boy with a diagnosis of VACTEREL association (type III esophageal atresia, congenital hip dislocation, scoliosis, bilateral clubfoot, and grade IV biliary ureteral reflux). Echocardiographic findings showed changes in the aortic arch, and angiotomography and magnetic resonance angiography showed a bovine aortic arch and an anomalous left vertebral artery. At the time of diagnosis, there were no clinical manifestations or complications due to the anomalous origin of the left vertebral artery. CONCLUSIONS This is the first description of a bovine type X arch according to the Natsis classification in a VACTEREL association. In general, knowledge of the anatomical variants of the aortic arch and the origin and course of the vertebral arteries is of great clinical and interventional importance, mainly because of the risk of cerebral ischemia.

Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.

BACKGROUND: 3 M syndrome is first reported in 1975，which characterized by severe pre- and postnatal growth retardation, skeletal malformation and facial dysmorphism. These three genes (CUL7, OBSL1 and CCDC8) have been identified to be respond for 3 M syndrome, of which CUL7 is accounting for approximately 70%. To date, the molecular mechanism underlying the pathogenesis of 3 M syndrome remains poorly understood. Previous studies showed that no Cul7-/- mice could survive after birth, because of growth retardation at late gestational stage and respiratory distress after birth. The establishment of the animal model of cartilage specific Cul7 knockout mice (Cul7fl/fl;Col2a1-CreERT2 mice) has confirmed that Cul7fl/fl;Col2a1-CreERT2 mice can be selective in a time- and tissue-dependent manner, which can provide an experimental basis for further research on severe genetic diseases related to growth plates. OBJECTIVE: To establish a model of Cul7fl/fl;Col2a1-CreERT2 mice based on Cre/LoxP system, and to further observe its phenotype and morphological changes in growth plate. METHODS: The Cul7fl/fl;Col2a1-CreERT2 mice were taken as the experimental group, while the genotype of Cul7fl/+;Col2a1-CreERT2 mice were used as the control group. The gross morphological features and X-ray films of limbs in the two groups were observed every week for 3-6 consecutive weeks, and the length of the mice from nose to the tail, the length of femur and tibia were recorded. In the meantime, The histological morphology of tibial growth plates was compared between the two groups. RESULTS: A preliminary model of Cul7fl/fl;Col2a1-CreERT2 mice was established. The Cul7fl/fl;Col2a1-CreERT2 mice had abnormally short and deformed limbs (P<0.05), increased thickness of growth plate, the disorderly arranged chondrocyte columns, decreased number of cells in the proliferation zone, changes in the shape from flat to round, obviously expanded extracellular matrix, and disordered arrangement, thickening and loosening of bone trabecula at the proximal metaphysis of the femur. CONCLUSIONS: The knockout of Cul7 gene may affect both the proliferation of chondrocytes and the endochondral osteogenesis, confirming that Cul7 is essential for the normal development of bone in the body.

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.

Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term, diaphanospondylodysostosis, includes ischiospinal dysotosis, which was previously known as a distinct entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable with mortality in early postnatal life in some patients. Main clinical and radiographic features are narrow thorax, vertebral segmentation defects, rib anomalies, ossification defects of vertebrae, ischium and sacrum, and renal cysts. In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.

Instrumentation failure following pediatric spine deformity growth-sparing surgery using traditional growing rods or vertical expandable prosthetic titanium ribs.

BACKGROUND: Instrumentation failure (IF) is a major complication associated with growth-sparing surgery for pediatric spinal deformities; however, studies focusing on IF following each surgical procedure are lacking. We aimed to evaluate the incidence, timing, and rates of unplanned return to the operating room (UPROR) associated with IF following each surgical procedure in growth-sparing surgeries using traditional growing rods (TGRs) and vertical expandable prosthetic titanium ribs (VEPTRs). METHODS: We reviewed 1,139 surgical procedures documented in a Japanese multicenter database from 2015 to 2017. Of these, 544 TGR and 455 VEPTR procedures were included for evaluation on a per-surgery basis. IF was defined as the occurrence of an implant-related complication requiring revision surgery. RESULTS: The surgery-based incidences of IF requiring revision surgery in the TGR and VEPTR groups were 4.3% and 4.0%, respectively, with no significant intergroup difference. Remarkably, there was a negative correlation between IF incidence per surgical procedure and the number of lengthening surgeries in both groups. In addition, rod breakage in the TGR group and anchor-related complications in the VEPTR group tended to occur relatively early in the treatment course. The surgery-based rates of UPROR due to IF in the TGR and VEPTR groups were 2.0% and 1.5%, respectively, showing no statistically significant difference. CONCLUSIONS: We found that IF, such as anchor related-complications and rod breakage, occurs more frequently earlier in the course of lengthening surgeries. This finding may help in patient counseling and highlights the importance of close postoperative follow-up to detect IF and improve outcomes.

Intraosseous hemangioma with aneurysmal bone cyst-like changes of the hyoid bone: Case report and literature review.

RATIONALE: Intraosseous hemangioma is a rare benign vascular tumor of the bone that can affect any body part; however, the most common site is the vertebra, followed by calvarial bones. PATIENT CONCERNS: We present a case of intraosseous hemangioma in a 23-year-old male who presented a feeling of fullness in the throat for 3 months. The hyoid bone level had a hard mass of about 5 cm. Fine needle aspiration showed 5 mL dark bloody aspirates. Magnetic resonance image showed a 5.3 cm mixed signal intensity lesion in the hyoid body. DIAGNOSIS: Histopathologic examination showed intraosseous hemangioma with aneurysmal bone cyst (ABC)-like changes in the hyoid bone. INTERVENTIONS: The mass was completely removed without significant problems. OUTCOMES: Complete mass excision and symptomatic improvements were achieved, and no subsequent relapses were observed. LESSONS: The authors experienced a case of intraosseous hemangioma with ABC-like changes. There has been no case report of intraosseous hemangioma in the hyoid bone. This case showed a spectral pattern of the ABC-like changes developing from the underlying bone tumor as a secondary change. ABC-like changes in bone tumors can mislead the diagnosis. Careful examination of the tumor is essential for the correct diagnosis of ABC or ABC-like changes.

Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.

Congenital vertebral malformation, affecting 0.13-0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital vertebral malformation and 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the probands and reveals a muscle-related disease mechanism. Gene-based burden test of ultra-rare variants identifies risk genes with large effect sizes (ITPR2, TBX6, TPO, H6PD, and SEC24B). To further investigate the biological relevance of the genetic association signals, we perform single-nucleus RNAseq on human embryonic spines. The burden test signals are enriched in the notochord at early developmental stages and myoblast/myocytes at late stages, highlighting their critical roles in the developing spine. Our work provides insights into the developmental biology of the human spine and the pathogenesis of spine malformation.

A comprehensive coding and microRNA transcriptome of vertebral bone in postlarvae and juveniles of Senegalese sole (Solea senegalensis).

Understanding vertebral bone development is essential to prevent skeletal malformations in farmed fish related to genetic and environmental factors. This is an important issue in Solea senegalensis, with special impact of spinal anomalies in postlarval and juvenile stages. Vertebral bone transcriptomics in farmed fish mainly comes from coding genes, and barely on miRNA expression. Here, we used RNA-seq of spinal samples to obtain the first comprehensive coding and miRNA transcriptomic repertoire for postlarval and juvenile vertebral bone, covering different vertebral phenotypes and egg-incubation temperatures related to skeleton health in S. senegalensis. Coding genes, miRNA and pathways regulating bone development and growth were identified. Differential transcriptomic profiles and suggestive mRNA-miRNA interactions were found between postlarvae and juveniles. Bone-related genes and functions were associated with the extracellular matrix, development and regulatory processes, calcium binding, retinol and lipid metabolism or response to stimulus, including those revealed by the miRNA targets related to signaling, cellular and metabolic processes, growth, cell proliferation and biological adhesion. Pathway enrichment associated with fish skeleton were identified when comparing postlarvae and juveniles: growth and bone development functions in postlarvae, while actin cytoskeleton, focal adhesion and proteasome related to bone remodeling in juveniles. The transcriptome data disclosed candidate coding and miRNA gene markers related to bone cell processes, references for functional studies of the anosteocytic bone of S. senegalensis. This study establishes a broad transcriptomic foundation to study healthy and anomalous spines under early thermal conditions across life-stages in S. senegalensis, and for comparative analysis of skeleton homeostasis and pathology in fish and vertebrates.

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.

Giant Congenital Hemangioma of the Skull: Prenatal Diagnosis and Multimodal Endovascular and Surgical Management.

Introduction: calvarial capillary hemangiomas are vascular tumors rarely seen in newborns. Differential diagnosis may be not straightforward on imaging studies and the management depends on patient and lesion characteristics. Case report: we present the case of a large congenital intracranial extra-axial lesion detected by routine prenatal US screening, a giant calvarial congenital hemangioma, treated with a multimodal strategy. Neonatal MR showed a hemorrhagic solid lesion, causing compression of brain tissue. Conservative treatment was attempted, but a one-month follow-up MR showed growth of the lesion with increased mass effect. Pre-operative endovascular embolization and surgical resection were performed. The pathology was consistent with intraosseous capillary hemangioma. The post-operative course was uneventful. At the 8-month follow-up, the patient had no clinical deficits and MR showed complete resection of the lesion. At the 13-month follow-up, the patient was asymptomatic, showing normal neurological examination and psychophysical development. Conclusions: although wait-and-see policy is feasible for small and asymptomatic lesions, radical resection is indicated when the mass is large, thus causing severe mass effect on the brain. Hypervascularization of the tumor may be responsible for hemorrhagic complications and severe anemia. On these grounds, endovascular treatment is feasible and effective to reduce hemorrhagic complications.

Survival and factors associated with mortality among infants with anorectal malformation: a population-based study from a middle-income country.

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.

Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.

BACKGROUND: 3M syndrome is a rare autosomal recessive developmental disorder characterized by pre and postnatal growth deficiency, dysmorphic facial features, and normal intelligence. 3M syndrome should be suspected in a proband with a combination of characteristic or recognizable dysmorphic features. The diagnosis of 3M syndrome could be confirmed by identifying biallelic variants in CUL7, OBSL1, or CCDC8. METHODS: Whole-exome sequencing (WES) was performed to identify genetic causes. Reverse-transcription polymerase chain reaction (RT-PCR) was performed to detect aberrant splicing events. Haplotypes were constructed using multiplex PCR and sequencing. Variants of the parental haplotype and target likely pathogenic variants were detected by PCR and Sanger sequencing from the embryos. Copy number variant (CNV) detection was performed by next-generation sequencing. RESULTS: We present the case of a nonconsanguineous Chinese couple with one abnormal pregnancy, where the fetus showed 3M phenotypes of shortened long bones. WES identified two novel heterozygous mutations in CUL7: NM_014780.5:c.354del (p.Gln119ArgfsTer52) and NM_014780.5:c.1373-15G>A. RT-PCR from RNA of the mother's peripheral blood leucocytes showed that c.1373-15G>A caused the insertion of a 13-bp extra intron sequence and encoded the mutant p.Leu459ProfsTer25. Both variants were classified as likely pathogenic according to ACMG/AMP guidelines and Clinical Genome Resource specifications. During genetic counseling, the options of prenatal diagnosis through chorionic villus sampling or amniocentesis, adoption, sperm donation, and electing not to reproduce, as well as preimplantation genetic testing for monogenic disorders (PGT-M), were discussed. The couple hopes to conceive a child of their own and refused to accept the 25% risk during the next pregnancy and opted for PGT-M. They finally successfully delivered a healthy baby through PGT-M. CONCLUSION: This study expanded the mutation spectrum of CUL7, detected the aberrant splicing event of CUL7 via RT-PCR, constructed the haplotype for PGT-M, and demonstrated the successful delivery of a healthy baby using PGT-M.

[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.

Substantial incidence of bladder dysfunction in patients with VACTERL association: Implications for surveillance.

VACTERL association is defined as the nonrandom co-occurrence of a minimum of three of the following six key components: Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities. Patients presenting with two components may also belong in the same spectrum. Additional components have been associated with VACTERL defects, including single umbilical artery, tethered spinal cord (TSC), and genital malformations. We observed a significant proportion of patients with bladder dysfunction (often called neurogenic bladder in the medical record) when reviewing a cohort of patients with VACTERL defects at our clinical center. Our finding calls attention to bladder dysfunction as an additional VACTERL phenotypic component. The prevalence of bladder dysfunction is greatest in those with genital anomalies, anorectal malformations, sacral dysplasia, renal anomalies, and TSC. We propose that patients with two or more VACTERL malformations be monitored for symptoms of bladder dysfunction if one or more of the identified risk factors are present until the achievement of urinary continence.

[Growth-preserving instrumentation for early onset scoliosis]. / Mitwachsende Korrektursysteme bei Early-Onset-Skoliosen.

OBJECTIVE: Early onset scoliosis is defined as a spinal deformity originating in the first 10 years of life. Growth-preserving spinal instrumentation has therefore been designed to preserve growth of spine and chest wall and lungs to avoid serious pulmonary complications after early spine fusion. Indications, surgical technique and results of the vertical expandable prosthetic titanium rib (VEPTR) technique, traditional growing rods (TGR), and magnetically controlled growing rods (MCGR) will be described. INDICATIONS: Indications for VEPTR are so-called mixed congenital deformities (type 3) associated with vertebral malformations in association with chest wall deformities, especially fused ribs. There are also indications for neuromuscular or syndromic early onset scoliosis with bilateral rib-to-ilium constructs. However, most of those deformities are currently treated with either GR or MCGR in most centers. GR and MCGR are currently the treatment of choice for the majority of early onset scoliosis. CONTRAINDICATIONS: There is no indication for growth-preserving strategies if the patients are mature or there is only little growth remaining. In these cases, final fusion should be performed. SURGICAL TECHNIQUE: While the VEPTR technique involves an extensive approach with muscular dissections to the thoracic cage including rib osteotomies and thoracotomies, treatment with TGR or MCGR is minimally invasive, only exposing proximal and distal anchor points, leaving most of the spine including the apex undisturbed. POSTOPERATIVE MANAGEMENT: Early mobilization is usually possible after 24-48 h. Braces may have to be prescribed for patients with osteopenia, noncompliance, or a risk to fall. RESULTS: Since 2005, more than 200 patients were treated with the VEPTR technique, more than 200 patients with the MCGR technique, and about 30 patients with the TGR technique in our department. Complication rates are high with all techniques including the law of diminishing returns, autofusion, bone anchor-related complications like loosening or migration of implants, failure to distract and proximal junctional kyphosis. In our own series of 13 patients below age 3 years, VEPTR proved to be effective for mixed deformities. In other studies, we were able to show that physiological growth with MCGR can be maintained for 2-3 years but spinal growth declines after that period with acceptable complications. Complication rates in most studies are lower with MCGR compared to TGR and VEPTR. Therefore, it is currently the treatment of choice for most early onset scoliosis patients.