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.

Prominent caudal shift of the lumbar plexus roots in spines with 18 thoracolumbar vertebrae.

PURPOSE: It remains unclear whether concomitant changes in the thoracolumbar (TL) vertebrae and lumbar plexus roots seen in experimental embryology are present in humans with different vertebral formulas, particularly in humans with 18 TL vertebrae. We thus investigated the human lumbar plexus root changes occurring in spines with an additional TL vertebra (18TL). METHODS: The lumbosacral plexus was macroscopically dissected in TL anomaly cases found in 161 computed tomography examinations. TL anomalies were distinguished as simple abnormalities in total TL count and abnormal TL trade-offs, i.e., exchanges between the last thoracic and first lumbar vertebrae, and were analyzed separately. RESULTS: One additional TL vertebra (7C_18TL_5S) was observed in 4/159 cases (2.5%), excluding cases with cervical and sacral abnormalities. Different from the unclear shifts of nerve roots in cases with 16TL and 17TL trade-offs, the 18TL trade-off tended to involve a caudal shift at the cranial limit, without event change at the caudal limit. In addition, only one nerve segment shift was reconfirmed with a change in two vertebral segments from 16 to 18 TL vertebrae. CONCLUSIONS: We revealed that concomitant changes in the lumbar plexus roots and vertebrae in humans with 18TL vertebrae may become more pronounced than those in humans with 16 or 17TL vertebrae, by approaching the typical mammalian TL formula (19TL). This study showed that the TL formula can be used to estimate changes in the lumbar plexus roots, which may assist in the planning of nerve-sparing spinal and pelvic surgery.

Medium-term and Long-term Follow-up Surgical Outcomes of the 1-stage Posterior-only Lumbosacral Hemivertebra Resection With Short-segment Fusion in Children.

BACKGROUND: The objective of this study was to evaluate the medium-term and long-term surgical outcomes of the 1-stage posterior-only lumbosacral hemivertebra resection with short-segment fusion in children. METHODS: This retrospective chart review included 21 children with congenital scoliosis due to lumbosacral hemivertebra who received 1-stage posterior-only hemivertebra resection with short-segment fusion from 2012 to 2016 with at least 5 years of follow-up. Standing anteroposterior and lateral radiographs of the spine were compared preoperatively, postoperatively, and at last follow-up. Radiographic evaluation included measured changes in segmental scoliosis and lordosis, compensatory scoliosis, thoracic kyphosis, lumbar lordosis, trunk shift, and sagittal spinopelvic alignment. RESULTS: There were 12 boys and 9 girls with a mean age of 6.5±3.2 years. The mean follow-up period was 6.7±1.3 years. The mean fusion level was 2.7±0.9 segments. The mean segmental scoliosis was 29±6 degrees preoperatively, 9±3 degrees (correction rate of 71%) postoperatively ( P <0.05), and 7±3 degrees (correction rate of 76%) at the latest follow-up. The compensatory curve of 26±12 degrees was spontaneously corrected to 14±8 degrees (correction rate of 47%) at last follow-up ( P <0.05). Trunk shift was significantly improved on both coronal (53%) and sagittal (56%) planes after surgery ( P 0.05) and stable at follow-up. The sagittal spinopelvic alignment was balanced in all cases. There were no neurological or infectious complications. CONCLUSIONS: It is safe and effective to perform 1-stage posterior-only lumbosacral hemivertebra resection with short-segment fusion, which can significantly correct the segmental scoliosis, prevent the compensatory curve progress and improve the trunk shift. This strategy also can save motion segments and avoid long lumbar fusion. Medium-term and long-term follow-up outcomes are satisfactory. LEVEL OF EVIDENCE: Level III.

Use of a Customized Three-dimensional Guide in Preparing the Pilot Pedicle Hole in Spinal Deformities / Uso de guia tridimensional personalizado no preparo do orifício do pedículo piloto em deformidades da coluna vertebral

Abstract Objective The present study aimed to develop and evaluate the use of customized guides in patients undergoing surgery to correct vertebral deformity with a pedicular fixation system. Methods Four patients with spinal deformity (three with idiopathic scoliosis and one with congenital kyphoscoliosis) underwent surgical treatment to correct the deformity with a pedicular fixation system. Prototypes of 3D cost guides were developed and evaluated using technical feasibility, accuracy, and radiation exposure. Results The present study included 85 vertebral pedicles in which pedicle screws were inserted into the thoracic spine (65.8%) and into the lumbar spine (34.2%). Technical viability was positive in 46 vertebral pedicles (54.1%), with 25 thoracic (54%) and 21 lumbar (46%). Technical viability was negative in 39 pedicles (45.9%), 31 of which were thoracic (79.5%), and 8 were lumbar (20.5%). In assessing accuracy, 36 screws were centralized (78.2%), of which 17 were in the thoracic (36.9%) and 19 in the lumbar spine (41.3%). Malposition was observed in 10 screws (21.7%), of which 8 were in the thoracic (17.4%) and 2 in the lumbar spine (4.3%). The average radiation record used in the surgical procedures was of 5.17 ± 0.72 mSv, and the total time of use of fluoroscopy in each surgery ranged from 180.3 to 207.2 seconds. Conclusion The customized guide prototypes allowed the safe preparation of the pilot orifice of the vertebral pedicles in patients with deformities with improved accuracy and reduced intraoperative radiation.

Resumo Objetivo O presente estudo teve como objetivo desenvolver e avaliar a utilização de guias personalizadas em pacientes submetidos a cirurgia para correção de deformidades vertebrais com sistema de fixação pedicular. Métodos Quatro pacientes com deformidade espinhal (três casos de escoliose idiopática e um caso de cifoescoliose congênita) foram submetidos a tratamento cirúrgico corretivo com sistema de fixação pedicular. Protótipos de guias tridimensionais foram desenvolvidos e avaliados quanto à viabilidade técnica, precisão e exposição à radiação. Resultados O presente estudo incluiu 85 pedículos vertebrais submetidos à inserção de parafusos pediculares na coluna torácica (65,8%) e na coluna lombar (34,2%). A viabilidade técnica foi positiva em 46 pedículos vertebrais (54,1%), sendo 25 torácicos (54%) e 21 lombares (46%). A viabilidade técnica foi negativa em 39 pedículos (45,9%), sendo 31 torácicos (79,5%) e 8 lombares (20,5%). Quanto à precisão, 36 parafusos foram centralizados (78,2%), sendo 17 na coluna torácica (36,9%) e 19 na coluna lombar (41,3%). O mau posicionamento foi observado em 10 parafusos (21,7%), sendo 8 na coluna torácica (17,4%) e 2 na coluna lombar (4,3%). A radiação média registrada nos procedimentos cirúrgicos foi de 5,17 ± 0,72 mSv, e o tempo total de uso da fluoroscopia em cada cirurgia variou de 180,3 a 207,2 segundos. Conclusão Os protótipos de guias personalizadas permitiram o preparo seguro do orifício piloto nos pedículos vertebrais em casos de deformidade, com maior precisão e menor exposição intraoperatória à radiação.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.

Arthrogryposis is a consequence of reduced fetal movements and arises due to environmental factors or underlying genetic defects, with extensive genetic heterogeneity. In many instances, the genes responsible are involved in neuromuscular function. Missense variants in the gene encoding embryonic myosin heavy chain (MYH3) usually cause distal arthrogryposis. Recently, mono-allelic or bi-allelic MYH3 variants have been associated with contractures, pterygia, and spondylocarpotarsal fusion syndrome 1 (CPSFS1A and CPSFS1B). Here we describe three fetuses presenting in the second trimester with a lethal form of arthrogryposis and pterygia and harbouring bi-allelic variants in MYH3. One proband was compound heterozygous for a missense change and an extended splice site variant, a second proband had a homozygous frameshift variant, and a third proband was homozygous for a nonsense variant. Minigene assays performed on the first fetus showed that the missense and extended splice site variants resulted in aberrant splicing, likely resulting in near complete loss of full-length MYH3 transcript. This study shows that loss of MYH3 is associated with a lethal arthrogryposis phenotype and highlights the utility of minigene assays to assess splicing.

Vertebral vascular canal dysplasia in French and English Bulldogs: Clinical, CT, and MRI characteristics and prevalence.

The authors have observed a vertebral anomaly in French and English Bulldogs and termed this anomaly "vertebral vascular canal dysplasia (VVCD)." No previously published descriptions of this anomaly were found. The aims of this retrospective, multi-institutional, observational study were to (1) describe the clinical, CT, and MRI characteristics of VVCD, and (2) estimate the prevalence and describe the characteristics of VVCD in a group of French and English Bulldogs. For descriptions of the anomaly, medical records and imaging studies of nine clinical cases with VVCD from several countries were reviewed. For estimation of prevalence, imaging studies of French and English Bulldogs from the United Kingdom (UK) and Italy were reviewed. All clinical case dogs had ≥5 thoracic vertebrae with VVCD affecting >50% of vertebral body height (VBH). The prevalence of VVCD involving ≥1 thoracic vertebra in the UK population (CT identified) of English Bulldogs and French Bulldogs was, respectively, 83.3% (30/36) and 68.3% (28/41). English Bulldogs had significantly more thoracic vertebrae with VVCD than French Bulldogs (P = < 0.01). The prevalence of VVCD in ≥1 thoracic vertebra in the Italian population (MRI identified) of English Bulldogs and French Bulldogs was, respectively, 21.7% (5/23) and 6.6% (7/106). Vertebral vascular canal dysplasia was observed in normal as well as in malformed vertebrae (e.g., hemivertebrae). Findings from the current study introduced descriptions of VVCD that can be used as background for future studies.

Bioinformatics Analysis and Experimental Verification Identify Downregulation of COL27A1 in Poor Segmental Congenital Scoliosis.

BACKGROUND: Congenital scoliosis (CS) represents the congenital defect disease, and poor segmental congenital scoliosis (PSCS) represents one of its types. Delayed intervention can result in disability and paralysis. In this study, we would identify the core biomarkers for PSCS progression through bioinformatics analysis combined with experimental verification. METHODS: This work obtained the GSE11854 expression dataset associated with somite formation in the GEO database, which covers data of 13 samples. Thereafter, we utilized the edgeR of the R package to obtain DEGs in this dataset. Then, GO annotation, KEGG analyses, and DO annotation of DEGs were performed by "clusterProfiler" of the R package. This study performed LASSO regression for screening the optimal predicting factors for somite formation. Through RNA sequencing based on peripheral blood samples from healthy donors and PSCS cases, we obtained the RNA expression patterns and screen out DEGs using the R package DESeq2. The present work analyzed COL27A1 expression in PSCS patients by the RT-PCR assay. RESULTS: A total of 443 genes from the GSE11854 dataset were identified as DEGs, which were involved in BP associated with DNA replication, CC associated with chromosomal region, and MF associated with ATPase activity. These DEGs were primarily enriched in the TGF-ß signaling pathway and spinal deformity. Further, LASSO regression suggested that 9 DEGs acted as the signature markers for somite formation. We discovered altogether 162 DEGs in PSCS patients, which were involved in BP associated with cardiac myofibril assembly and MF associated with structural constituent of muscle. However, these 162 DEGs were not significantly correlated with any pathways. Finally, COL27A1 was identified as the only intersected gene between the best predictors for somite formation and PSCS-related DEGs, which was significantly downregulated in PSCS patients. CONCLUSION: This work sheds novel lights on DEGs related to the PSCS pathogenic mechanism, and COL27A1 is the possible therapeutic target for PSCS. Findings in this work may contribute to developing therapeutic strategies for PSCS.

Association between intra-operative hemodynamic changes and corrective procedures during posterior spinal fusion in adolescent patients with scoliosis: A case-control study.

ABSTRACT: Previous reports indicated that a decrease in intra-operative cardiac output and mean arterial pressure occurs due to thoracic cage deformities when patients with scoliosis are placed in the prone position. The aims of this study were to investigate the occurrence of hypotension during posterior spinal fusion in adolescent patients with scoliosis, and the association between hypotension, surgical procedures, changes of thoracic cage morphology.This retrospective, single-center, case-control study included 106 patients who underwent surgeries for spinal deformity at our institute between June 2014 and March 2020. The inclusion criteria were: age ≤19 years at the time of surgery, lowest instrumented vertebra over L5, posterior spinal fusion as the first surgery for scoliosis, and no severe cardiac or pulmonary disease pre-operatively. Finally, 49 patients met the criteria, and were divided to 3 groups as follows: thoracic constructive curve using a 6.0-mm cobalt-chromium alloy circular rod (T-C group; n = 28); thoracolumbar/lumbar constructive curve using a 6.0-mm cobalt-chromium alloy circular rod (L-C group; n = 8); and thoracic constructive curve using a 5.5-mm cobalt-chromium alloy beam-like rod (T-B group; n = 13). The beam-like rod is characteristic as the rod is mounted to screw heads without cantilever force. Intra-operative changes in circulation associated with corrective procedures, perioperative data, and sagittal depth and sternum deviation of thoracic cage were compared between the 3 groups.The T-C group had a higher rate of hypotension alarm than did the other groups (7 vs 0 vs 0; P = .047). Corrective procedures included rodding 4 times, rod rotation maneuver once, and direct vertebral rotation twice. Blood pressure was increased by pausing the correction procedures, increasing infusion, and administering vasopressors. The T-C and T-B groups had greater sternum deviation parameters than the L-C group, both before and after surgery. All parameters associated with sagittal depth and sternum deviation decreased significantly after surgery in the T-C and the T-B groups.In corrective surgery for constructive thoracic scoliosis, the corrective procedures requiring the application of compression force in the forward direction should be closely monitored in view of their possible influence on circulatory conditions.

Transitional vertebrae and numerical variants of the spine : prevalence and relationship to low back pain or degenerative spondylolisthesis.

AIMS: Although lumbosacral transitional vertebrae (LSTV) are well-documented, few large-scale studies have investigated thoracolumbar transitional vertebrae (TLTV) and spinal numerical variants. This study sought to establish the prevalence of numerical variants and to evaluate their relationship with clinical problems. METHODS: A total of 1,179 patients who had undergone thoracic, abdominal, and pelvic CT scanning were divided into groups according to the number of thoracic and lumbar vertebrae, and the presence or absence of TLTV or LSTV. The prevalence of spinal anomalies was noted. The relationship of spinal anomalies to clinical symptoms (low back pain, Japanese Orthopaedic Association score, Roland-Morris Disability Questionnaire) and degenerative spondylolisthesis (DS) was also investigated. RESULTS: Normal vertebral morphology (12 thoracic and five lumbar vertebrae without TLTV and LSTV) was present in 531 male (76.7%) and 369 female patients (75.8%). Thoracolumbar transitional vertebrae were present in 15.8% of males and 16.0% of females. LSTV were present in 7.1% of males and 9.0% of females. The prevalence of the anomaly of 16 presacral mobile vertebrae (total number of thoracolumbar vertebrae and TLTV) without LSTV was 1.0% in males and 4.1% in females, and that of the anomaly of 18 vertebrae without LSTV was 5.3% in males and 1.2% in females. The prevalence of DS was significantly higher in females with a total of 16 vertebrae than in those with normal morphology. There was no significant correlation between a spinal anomaly and clinical symptoms. CONCLUSION: Overall, 24% of subjects had anomalies in the thoracolumbar region: the type of anomaly differed between males and females, which could have significant implications for spinal surgery. A decreased number of vertebrae was associated with DS: numerical variants may potentially be a clinical problem. Cite this article: Bone Joint J 2021;103-B(7):1301-1308.

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be responsible for this condition. Here, we present two unrelated individuals presenting with features typical of SCT in which Sanger sequencing combined with whole genome sequencing identified novel, homozygous intragenic deletions in FLNB (c.1346-1372_1941+389del and c.3127-353_4223-1836del). Both deletions remove several consecutive exons and are predicted to result in a frameshift. To our knowledge, this is the first time that large structural variants in FLNB have been reported in SCT, and thus our findings add to the classes of variation that can lead to this disorder. These cases highlight the need for copy number sensitive methods to be utilized in order to be comprehensive in the search for a molecular diagnosis in individuals with a clinical diagnosis of SCT.

Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report.

BACKGROUND: Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. CASE PRESENTATION: We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. CONCLUSION: Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

Multi-level sagittally cleft vertebrae: a case report and review of the literature.

The term "sagittal cleft vertebra" (SCV) denotes a rare embryologically derived longitudinal defect within the vertebral body, which is clinically and radiologically challenging to diagnose in isolation. This defect results in two hemivertebrae, which ossify discordantly, ultimately leading to a sagittal cleft through the vertebral body. Often presenting with low back pain or concomitant with an associated syndromic illness, SCV is often found incidentally and can mimic vertebral compression fractures radiographically. Treatment of SCV has largely been conservative and symptomatic. With only 109 reported cases in the current literature, we present a unique case of multiple SCV throughout the thoracolumbar region in an adolescent patient. We performed a review of the literature to identify published cases of SCV to date. We searched PUBMED using the terms "sagittal cleft vertebrae", "butterfly vertebrae", and "anterior rachischisis". Abstracts were screened for reports specifically involving original cases of SCV. Given the well-established association with syndromic illnesses, finding an SCV warrants further investigation for other abnormalities of the musculoskeletal, cardiac, and genitourinary systems. Complex management strategies are rare unless the SCV is associated with an aberrant syndrome, disc herniation or severe musculoskeletal abnormality, or symptomatic disc herniation requiring surgical management. Further studies should focus on uncovering the genetic markers leading to the cleft vertebral bodies, with a focus on early screening and monitoring of patients who could be predisposed to the condition.

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.

Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

BACKGROUND: Distal arthrogryposis (DA) is a group of rare Mendelian conditions that demonstrate heterogeneity with respect to genetics and phenotypes. Ten types of DAs, which collectively involve six genes, have been reported. Among them, the MYH3 gene causes several types of arthrogryposis conditions and therefore has a pivotal role in the skeletal and muscle development of the fetus. For this study, we recruited a five-generation Chinese family with members presenting DA features and phenotypic variability. Further clinical study characterized it as CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). METHODS: Genomic DNA was extracted from eight family members, including one fetus. Whole-exome sequencing (WES) was then conducted on the proband's sample, followed by Sanger sequencing as validation for each of the participants. In silico analysis was performed. Western blotting (WB) detection and pathological staining were conducted on skeletal muscle tissue of the induced fetus after prenatal diagnosis. RESULTS: A novel heterozygous pathogenic variant, namely NM_002470.3: c.3044_3047delinsTCAATTTGTT: p.E1015_D1016delinsVNLF in the MYH3 gene, was identified and shown to be cosegregated with the condition in the subject family. This variant resulted in the replacement of amino-acid residues E1015 and D1016 by a string of VNLFs. The pregnancy was selectively terminated because the fetus was genetically affected. However, the WB and pathological results did not indicate a significant change in the norm. CONCLUSIONS: Our study expanded the variant spectrum of CPSFS1A, in addition to which it provided solid evidence for the appropriateness of genetic counseling and pregnancy management for the family. The results may also provide further insight into the molecular mechanism of MYH3.

Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome.

BACKGROUND: Patients with Klippel-Feil syndrome may present with neurologic complaints such as neck pain, radiculopathy and gait instability. Here we describe surgical management of a patient with congenital fusion of the occipital-cervical region and also block circumferential fusion of dens to T3 with spinal cord compression. This report is the first of its kind with such extensive fusion. CASE DESCRIPTION: Our patient was a 56 year-old female, who presented with neck pain and tingling in all extremities. On exam, she had a short neck, prominent jaw with extremely limited range of motion in neck and features of myelopathy. CT showed fusion of the dens to T3 vertebrae. Patient underwent sub-occipital craniectomy, C1 laminectomy and Occiput to T5 posterior fixation and fusion with neurologic improvement. CONCLUSION: This is the first reported case of Klippel-Feil syndrome with fusion of all cervical vertebrae down to T3. We recommend surgery for advanced cases of myelopathy or radiculopathy due to stenosis and spinal instability.

Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis).

This is a case report of a 2-year-old male who presented with walking disability and sphincter incontinence since birth. His mother has diabetes mellitus. The patient had a normal mental function, and his lower extremities were hypoplastic and akinetic. Spinal neuroimaging investigations revealed agenesis of the spinal column below T9 vertebral level with abrupt termination of the spinal cord at the T6 vertebral level. With this severe caudal regression syndrome (CauReS), cardiac, anorectal, urologic, and orthopedic consultations were made looking for other potential associated malformations. Unfortunately, no neurosurgical indication was suggested. CauReS is a rare congenital disorder in which there is abnormal fetal development of the lower spine and hypoplasia of the lower extremities. Neurosurgically, there are no clear guidelines to follow for patients with CauReS. Sometimes, surgical spinal cord untethering may be indicated in some selected patients to improve neurologic function.

Spinal cord injury in an adult patient with thoracic butterfly vertebra: a case report and review of the literature.

BACKGROUND: Butterfly vertebrae are a rare congenital vertebral anomaly. An overlap of this spinal anomaly with other diseases has been reported. However, to the authors' knowledge, the coexistence of butterfly vertebrae and spinal cord injury has not been reported in the literature. CASE PRESENTATION: A 42-year-old male was admitted to our emergency department after a motor vehicle accident. His complaint was back pain, and he was unable to move both lower limbs. Upon physical examination, the patient was not ambulatory. Sensory examination revealed the absence of sensation below the T12 level. The strength of the bilateral lower limbs was grade 0. The patient received a radiographic evaluation. The initial diagnosis was T11 fracture with complete paraplegia of the lower limbs. Magnetic resonance imaging (MRI) was then performed. Sagittal MRI demonstrated an isointense lesion on T1-weighted imaging and a high-signal spindle-like lesion on T2-weighted imaging of the spinal cord adjacent to the T11 vertebra. The fat-suppressed sequence also revealed hyperintensities of the cord. There was no evidence of acute injury of the T11 vertebral body except for cuneiform anterior wedging. The patient was ultimately diagnosed with complete paraplegia with a T11 butterfly vertebra. He underwent urgent posterior decompressive and fixation surgery from T10 to T12. His postoperative recovery was uneventful. CONCLUSIONS: The coexistence of a butterfly vertebra with spinal cord injury was reported for the first time. Although butterfly vertebrae may be incidentally detected, it is important to be familiar with their radiographic features to distinguish them from fractures.

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations.

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in association with other congenital anomalies. The genetic etiology of most VMs remains unknown and their identification may facilitate the development of novel therapeutic and prevention strategies. Exome sequencing was performed on both the discovery cohort of nine unrelated probands from the USA with VMs and the replication cohort from China (Deciphering Disorders Involving Scoliosis & COmorbidities study). The discovery cohort was analyzed using the PhenoDB analysis tool. Heterozygous and homozygous, rare and functional variants were selected and evaluated for their ClinVar, HGMD, OMIM, GWAS, mouse model phenotypes, and other annotations to identify the best candidates. Genes with candidate variants in three or more probands were selected. The replication cohort was analyzed by another in-house developed pipeline. We identified rare heterozygous variants in KIAA1217 in four out of nine probands in the discovery cohort and in five out of 35 probands in the replication cohort. Collectively, we identified 11 KIAA1217 rare variants in 10 probands, three of which have not been described in gnomAD and one of which is a nonsense variant. We propose that genetic variations of KIAA1217 may contribute to the etiology of VMs.