Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and, in cooperation with other myogenic regulatory factors MYOD and MYF5, is a key regulator of early stages of myogenesis. Here, we report three consanguineous families with biallelic homozygous loss-of-function mutations in MYF5 who define a clinical disorder characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. The clinical phenotype overlaps strikingly with that reported in several Myf5 knockout mouse models. Affected members of two families share a haploidentical region that contains a homozygous 10 bp frameshift mutation in exon 1 of MYF5 (c.23_32delAGTTCTCACC [p.Gln8Leufs∗86]) predicted to undergo nonsense-mediated decay. Affected members of the third family harbor a homozygous missense change in exon 1 of MYF5 (c.283C>T [p.Arg95Cys]). Using in vitro assays, we show that this missense mutation acts as a loss-of-function allele by impairing MYF5 DNA binding and nuclear localization. We performed whole-genome sequencing in one affected individual with the frameshift mutation and did not identify additional rare variants in the haploidentical region that might account for differences in severity among the families. These data support the direct role of MYF5 in rib, spine, and extraocular muscle formation in humans.

Comparison of cervical vertebral anomalies and sella turcica bridging in different growth stages with various vertical skeletal growth patterns.

PURPOSE: To compare cervical vertebral anomalies and sella turcica bridging (STB) in different growth stages in orthodontic patients with different vertical skeletal growth patterns. METHODS: Lateral cephalometric radiographs (LCR) of 270 patients in the preadolescent, adolescent, or postadolescent periods and having low angle [LA], normal angle [NA], or high-angle [HA] vertical skeletal growth patterns were evaluated retrospectively. STB was visualized using LCRs while evaluating the deficiency of ponticulus posticus (PP) and atlas posterior arch (PAA) associated with the atlas bone. The Pearson chi-square and Fisher's exact tests were used for categorical data and one-way ANOVA for numerical data. RESULTS: The prevalence of fully calcified PP and STB increased from the preadolescent (PP, 10.0%; STB, 11.1%) to the postadolescent period (PP, 24.4; STB, 21.1%); they did not differ from vertical skeletal growth patterns (p > 0.05). The prevalence of PAA deficiency is significantly higher in individuals with LA (46.7%) than with other angles (NA, 27.8%; HA, 26.7%). The vertical skeletal growth pattern was significantly related to STB in the preadolescent period and PAA in the postadolescent period. CONCLUSIONS: Different anomalies during different growth periods correlate with the vertical skeletal growth pattern. It will be useful to evaluate a different anomaly according to the relevant growth period.

Evaluation of the cervical vertebral anomalies in patients with cleft lip and palate in Aegean region of Turkey.

OBJECTIVE: To identify the cervical vertebral anomalies in patients with cleft lip and palate, and to compare unilateral and bilateral cleft lip and palate. METHODS: The retrospective cohort study was conducted in 2018 at Department of Orthodontics, Ege University, Izmir, Turkey, and comprised non-deteriorated lateral cephalometric radiographs of non-syndromic patients which showed the entire cervical spine. The radiographs were divided into two groups, with group A having those of patients with cleft lip and palate exposure, and control group B having those with non-exposure. Within group A, unilateral and bilateral cleft lip and palate cases were compared. Data was analysed using SPSS 22. RESULTS: Of the 220 subjects, 110(50%) were in group A with a mean age of 15±6.3 years, and 110(50%) were in group B with a mean age of 15±2.1 years. Within group A, 56(50.9%) subjects had unilateral and 54(49.1%) had bilateral cleft lip and palate. Cervical vertebral anomalies were found in 71(64.5%) patients and 45(40.9%) controls (p<0.001). Among those with bilateral condition, it was found in 41(75.9%) and in unilateral 56(56.6%) (p<0.05). Occipitalisation was 21(38.9%) in bilateral and 4(7.1%) in unilateral cases (p<0.001). Fusion was higher in bilateral patients 16(63%) compared to 23(41.1%) unilateral (p<0.05). Posterior arch deficiencies were found in 30(27.3%) patients in group A and 18(16.4%) controls in group B (p<0.05). Fusion was seen in 57(51.8%) group A patients and 33(30%) group B controls (p<0.001). CONCLUSIONS: Cervical vertebral anomalies were mostly found in patients with cleft lip and palate. In patients with bilateral condition, more than one anomaly was seen.

Vertebral, intraspinal and other organ anomalies in congenital scoliosis.

AIMS: This study was undertaken to describe the pattern of vertebral, intraspinal and other organ anomalies in patients with congenital scoliosis and to determine the correlation between them. METHODS: Complete medical and radiological records of 227 consecutive patients with congenital scoliosis were analysed. The radiographs were examined for type of vertebral anomaly, location and severity of deformity. The median curve progression index (MCPI) was calculated in 198 patients. The magnetic resonance imaging (MRI) of the whole spine was analysed to detect the presence of cord abnormalities. The presence of other organ-system anomalies was also noted. The independent sample t test was used to compare severity of deformity between those with and without cord anomalies. The Chi-square test was used to compare frequency of cord abnormalities in different vertebral and organ-system anomalies. RESULTS: Hemivertebra with contralateral bar had the highest MCPI, while block vertebrae and wedge vertebrae had the lowest MCPI. Forty-eight patients had 83 cord anomalies. There was no statistically significant difference in severity of deformity, between those with and without cord anomalies. Failure of segmentation had the highest frequency of cord anomalies (p = 0.01). There was no significant difference in the frequency of cord anomalies between those with and without other organ defects. CONCLUSION: Curve progression can be predicted by the underlying vertebral abnormalities. However, it cannot predict cord and other organ-system anomalies. Thus, all patients with congenital scoliosis must undergo MRI of the spine, electro- and echocardiography and ultrasonography of the abdomen to detect occult abnormalities and optimize the patient prior to deformity correction.

Anorectal Malformation Associated with Klippel-Feil Syndrome: A Rare Association.

Anorectal malformations (ARMs) are a complex group of malformations associated with various congenital anomalies. Klippel-Feil syndrome (KFS) is characterized by fusion of cervical vertebrae, short neck, torticollis, and/or facial asymmetry and very rarely associated with ARM. In the presence of cervical vertebral anomalies in ARM, one should search for the presence of KFS as an association. If this anomaly is found to be associated, caution is needed during positioning for examination, surgery, during laryngoscopy, and intubation due to risk of neurological damage. We hereby present a very rare association of KFS with ARM with solitary kidney and ipsilateral vesicoureteral reflux.

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause.

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association.

VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies.

Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia.

OBJECTIVE: The objective of this study was to determine whether patients with isolated microtia or aural atresia have an increased prevalence of renal or cervical vertebral anomalies. DESIGN: The study design was a retrospective medical record review. SETTING: The setting was the following four distinct institutions: an urban tertiary care children's hospital, two urban academic medical centers, and a staff-model health maintenance organization. PARTICIPANTS: Patients diagnosed with microtia, aural atresia, or oculoauriculovertebral spectrum were identified. Patients with facial asymmetry, craniofacial microsomia, and other craniofacial abnormalities or syndromes were excluded. MAIN OUTCOME MEASURES: Main outcome measures were the number of patients with isolated microtia or aural atresia who underwent a renal ultrasound or cervical spine X-ray, the results of those studies, and further evaluation or treatment for any abnormalities found. STATISTICAL ANALYSIS: A binomial analysis using a one-sided 95% confidence level was performed. RESULTS: A total of 514 patients with isolated microtia and/or aural atresia were identified. Of these patients, 145 (28%) had undergone a renal ultrasound and 81 (16%) had undergone cervical spine X-rays. A total of 3 patients (2%) had minimal renal pelviectasis, all of which had resolved on repeat ultrasound and required no treatment. There were no structural renal abnormalities identified, and there were no cervical spine abnormalities identified. CONCLUSIONS: The data suggest that there is no increased prevalence of structural renal or cervical vertebral anomalies in patients with isolated microtia and/or aural atresia. Therefore, these patients do not require routine screening renal ultrasound or cervical spine X-rays.

Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible.

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555 kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement.

Maternal risk factors for congenital vertebral formation and mixed defects: A population-based case-control study.

Background: The etiology and risk factors of congenital vertebral anomalies are mainly unclear in isolated cases. Also, there are no reports on the risk factors for different subgroups of vertebral anomalies. Therefore, we assessed and identified potential maternal risk factors for these anomalies and hypothesized that diabetes, other chronic diseases, smoking, obesity, and medication in early pregnancy would increase the risk of congenital vertebral anomalies. Methods: All cases with congenital vertebral anomalies were identified in the Finnish Register of Congenital Malformations from 1997 to 2016 for this nationwide register-based case-control study. Five matched controls without vertebral malformations were randomly selected. Analyzed maternal risk factors included maternal age, body mass index, parity, smoking, history of miscarriages, chronic diseases, and prescription drug purchases in early pregnancy. Results: The register search identified 256 cases with congenital vertebral malformations. After excluding 66 syndromic cases, 190 non-syndromic malformations (74 formation defects, 4 segmentation defects, and 112 mixed anomalies) were included in the study. Maternal smoking was a significant risk factor for formation defects (adjusted odds ratio 2.33, 95% confidence interval 1.21-4.47). Also, pregestational diabetes (adjusted odds ratio 8.53, 95% confidence interval 2.33-31.20) and rheumatoid arthritis (adjusted odds ratio 13.19, 95% confidence interval 1.31-132.95) were associated with mixed vertebral anomalies. Conclusion: Maternal pregestational diabetes and rheumatoid arthritis were associated with an increased risk of mixed vertebral anomalies. Maternal smoking increases the risk of formation defects and represents an avoidable risk factor for congenital scoliosis. Level of evidence: III.

Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report.

This case report highlights vertebral segmental anomalies and the fact that the child presented has a rare neurologic condition called pontine tegmental cap dysplasia. Additionally, this case aims to educate learners in developing a differential diagnosis for vertebral and cardiac anomalies such as VACTERL syndromes and common syndromes associated with butterfly vertebrae in children and adolescents.

Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association.

Tracheal agenesis (TA) is an extremely rare malformation. We report here autopsy findings in a case of TA with bronchoesophageal fistula of Floyd type III. The other malformations present included laryngeal atresia, Right lung hypolobulation, ventricular septal defect in membranous portion, bilateral cystic renal dysplasia, spleninculus, Meckel's diverticulum, and imperforate anus. The constellations of malformations present in our case have overlapping features with Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Tracheo-esophageal fistula, Esophageal atresia, Renal anomalies, Limb anomalies and Tracheal atresia or laryngo tracheal atresia, Cardiac anomalies, Renal anomalies, Duodenal atresia association described previously in the literature.

Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.

OBJECTIVE: The 16p11.2 copy number variations (CNVs) are increasingly recognized as one of the most frequent genomic disorders, with a broad spectrum of phenotypes. The fetal phenotype associated with 16p11.2 CNVs is poorly described. The current study presents prenatal series of 16p11.2 CNVs and provides a better understanding of this submicroscopic imbalance in prenatal diagnosis. METHOD: Retrospective case series were extracted from a single tertiary referral center performing prenatal single nucleotide polymorphism (SNP) array from April 2017 to December 2021. The maternal demographics, indication for amniocentesis, ultrasound findings, SNP array results, inheritance of the CNVs, and pregnancy outcomes were studied. RESULTS: We indentified 30 fetuses carrying 16p11.2 CNVs, representing 0.35% (30/8578) of prenatal SNP array results. The series included 17 fetuses with a proximal deletion, 7 with a distal deletion, 4 with a proximal duplication, and 2 with a distal duplication. Prenatal ultrasound anomalies were reported in 80% of these cases. The most common presentation was vertebralanomalies (9/30). Other features noted in more than one fetus were increased nuchal translucency/nuchal fold (NT/NF) (5/30), absent/hypoplastic nasal bone (3/30), polyhydramnios (3/30), ventricular septal defect (VSD) (2/30), unilateral mild ventriculomegaly (2/30), fetal growth restriction (FGR) (2/30), right aortic arch (2/30). All the 9 vertebralanomalies were present in fetuses harboring proximal deletion (9/17). Familial transmission was confirmed in 44% of cases (11/25) and termination of pregnancy was requested in 62.1% (18/29) of cases. CONCLUSION: The 16p11.2 CNVs can have variable prenatal phenotypes and these CNVs are frequently inherited from parents with a milder or normal phenotype. Our results underline that vertebral deformities were frequent in cases of 16p11.2 proximal deletion, and further demonstrate the incomplete penetrance of the CNVs.

Cervical Vertebral Stenotic Myelopathy in a Nelore Calf.

This paper aims to report clinical, laboratory, radiographic, and pathological features in a case of cervical vertebral stenotic myelopathy (CVSM) affecting a 4-month-old Nelore calf for the first time. During physical examination, the calf could stand if assisted when lifting by the tail but fallen to the ground when trying to walk. Attempts to flex and extend the neck to the right side failed. Radiographs findings consisted of reduced intervertebral spaces, and misalignments between the endplates, more evident between the C3 and C4 vertebrae, resulting in narrowing of the spinal canal and compression of the spinal cord. Grossly, C4 showed cranial articular surface malformation, abnormal metaphyseal growth plate development, reduced vertebral body size and deformity. Histologically, C4 showed an abnormal vertebral bone development characterized by moderate replacement of trabecular bone by fibrous tissues, multifocal areas of dystrophic hyaline cartilage development, and cartilaginous growth failure along the metaphyseal growth plate. Cervical spinal cord within the stenotic vertebral canal showed swollen neurons with central chromatolysis, areas of Wallerian degeneration, and necrotic debris. In contrast with the well-known Wobbler syndrome in horses, the etiology of CVSM in cattle remains undetermined, and further genetic and pathological studies must be conducted to elucidate it.

Use of magnetic resonance imaging in the diagnosis of fetal vertebral abnormalities in utero: a single-center retrospective cohort study.

Background: Magnetic resonance imaging (MRI) has been used increasingly as an adjunct examination to ultrasound (US) for the evaluation of fetal anomalies. The purpose of this study was to determine whether the accuracy and confidence of diagnosing fetal vertebral anomalies are improved with MRI. We also assessed whether fetal MRI provides additional information when diagnosing fetal vertebral anomalies. Methods: We performed a single-center, retrospective study of 127 pregnant women with fetuses suspected of having vertebral anomalies on US examination; women also underwent fetal MRI scanning. Comparisons of diagnostic accuracy and confidence were made between MRI and US for the identification of fetal vertebral anomalies. We also assessed any additional information provided by MRI. McNemar's paired binomial test, chi-square test, or Fisher's exact test were used to compare the diagnostic ability between MRI and US. In all cases, postnatal or postmortem imaging findings were used as reference standards. Results: A total of 127 participants were recruited between December 2015 and January 2021. Fetal vertebral anomalies were detected in 63.8% (81/127) cases and found to be negative in 36.2% (46/127) of cases at follow up. The diagnostic accuracy of vertebral anomalies was 46.9% (38/81) for US and 84.0% (68/81) for MRI [difference, 37.1%; 95% confidence interval (CI): 27% to 48%; P<0.001]. Both MRI and US were concordant and correct in 36.2% (46/127) of fetuses; MRI provided additional information for 16.5% (21/127) of fetuses, and corrected US diagnoses of 36.2% (46/127) of fetuses; both MRI and US were not consistent with postnatal findings in 10.2% (13/127) of fetuses, and the remaining fetus (0.8%, 1/127) was diagnosed correctly using US but failed to be diagnosed by MRI. Diagnoses were reported with high confidence using MRI in 95.3% (121/127) of cases and 73.2% (93/127) using US. Conclusions: Fetal vertebral MRI improves the accuracy and confidence of diagnosing fetal vertebral anomalies. This finding indicates that fetal MRI supplements the information provided by US and that MRI may be a good complement in selected fetuses, when US can either not achieve a definite diagnosis or there is doubt regarding its reliability. Thus, MRI may be used to inform prenatal counseling and management decisions.

Analysis of risk factors and treatment outcome in patients presenting with neglected congenital spinal deformity and neurological deficit.

PURPOSE: Congenital spinal deformities (CSD) are uncommon; and usually present during early childhood. Rarely, patients have been reported to present with neglected CSD in association with myelopathy. The current study reports the largest series of patients with neglected CSD and major neuro-deficit; and discusses their long-term outcome. METHODS: We retrospectively analysed patients with CSD who presented with myelopathy and underwent surgical management between January 2008 and January 2018. Only patients who had complete clinico-radiological records and completed minimum 2-year follow-up were included. Neurology was graded according to American Spinal Injury Association Impairment, Nurick and modified Japanese Orthopaedic Association scores. Radiological details like deformity type, location, magnitude, and underlying anomaly were recorded. A comparative analysis of parameters between pre-operative and final follow-up periods was performed. RESULTS: Thirty three (age = 21.1 ± 11.9 years) patients with CSD and myelopathy were included. Mean duration since myelopathy was 5.2 ± 6.2 months. Thirty (91%) patients presented with kyphosis or kyphoscoliosis; and 18 had upper thoracic-level lesion (12 and 3 with mid- or low-thoracic and lumbar lesions). 16 (48.5%) and 12 (36.4%) presented with types 1 and 3 anomalies, respectively. Mean pre-operative mJOA and Nurick grades were 8.8 ± 2.4 and 3.4 ± 0.7. Based on ASIA score, 2, 5, 21 and five patients presented with grades A, C, D and E, respectively. All patients underwent surgeries from posterior-only approach. Mean follow-up was 4.7 ± 2.6 years. In kyphoscoliosis group, coronal and sagittal Cobb improved by 23.8° and 25.9°, respectively. Mean deformity improved by 19.6° and 15.6° in scoliosis and kyphosis groups, respectively. Neurological status improved in 5, remained stable in 23 and deteriorated in five patients. Mean mJOA and Nurick grades at final follow-up was 8.3 ± 3.1and 3.4 ± 0.9. CONCLUSION: Major neurological deficit is a rare complication of neglected CSD. In our series, such a presentation was observed in patients with kyphotic or kyphoscoliotic deformities, type 1 or 3 vertebral anomalies and proximal thoracic vertebral lesions. Surgery can be valuable in these patients, as it not only stabilises deformity, but also provides the best chance of preventing neuro-deterioration.

VACTERL association in a fetus with multiple congenital malformations - Case report.

VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies. We present the case of a male fetus with multiple anomalies consistent with VACTERL association such as scoliosis, imperforate anus, common truncus arteriosus, tracheoesophageal fistula associated with inferior esophagus atresia, polycystic kidneys, with short right ureter, lower limb hypoplasia micrognathia, hygroma, duodenal atresia, and cloacal malformation, with an aberrant omphalomesenteric duct. The presented case highlights the crucial importance of pathologists specialized in the dissection and confirmation of fetal abnormalities as an essential part of the multidisciplinary team that establishes the management of complicated pregnancies with this type of pathology.

Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations.

AIM: To evaluate the correlation between sacral/vertebral anomalies and spinal cord anomalies (SCA) on MRI, in patients with anorectal malformation (ARM). METHODS: Patients with ARM consecutively treated between January 1999 and August 2019 were included. Radiological imaging of sacrum and spine were retrospectively analyzed and correlated to the presence of SCA at MRI. Fisher's exact test and X2 test were used as appropriate; p<0.05 was considered statistically significant. RESULTS: 348 patients with ARM were enrolled in the study, 147 presented SCA at MRI. 144 patients showed spinal bone anomalies, isolated vertebral and sacral anomalies were found in 17,6% and 35% respectively. Higher level of ARM was associated with a significant higher prevalence of sacral and vertebral anomalies. A significant correlation was found between the "level" of ARM and the presence of SCA (p<0.05). Sacral anomalies were significantly correlated with the presence of SCA at MRI (p<0.05). SCA were found in 70% of patients with vertebral anomalies (VA) and in 76% of patients with sacral anomalies. The presence of multiple malformations (vertebral and sacral anomalies) are strictly related to the presence of SCA. However, the absence of spinal bone anomalies does not exclude the presence of SCA. SD was the most represented type of SCA (n=94/147), of those 96% had fatty filum. Neurological or neurourological symptoms were detected in 11,5% patients (n=17) with SCA and required neurosurgical intervention. CONCLUSIONS: Our data confirm the strong relation between sacral or vertebral anomalies and SCA. However, in our series also patients without sacral/vertebral anomalies had SCA at MRI. Our results suggest that, despite the presence or absence of spinal anomalies, spinal cord MRI should be performed in all children with ARM, to allow a correct multidisciplinary follow-up and treatment. In fact, most patients with spinal bone and SCA are asymptomatic, but could develop clinical manifestations during their growth.