Vertebral Malformations Research Articles

Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study.

BackgroundCongenital scoliosis (CS) is characterized by vertebral malformations. The precise etiology of CS is not fully defined. A compound inheritance of TBX6 was identified in 10% of patients with CS in Han Chinese and formed a distinguishable subtype named TBX6-associated congenital scoliosis (TACS).MethodsTo investigate the variants and risk haplotype of TBX6, we recruited 121 patients with CS at Beijing Children’s Hospital. We collected the clinical characteristics and surgical treatment options and followed their postoperative prognoses.ResultsEight patients (6.6%) were molecularly diagnosed with TACS and carried the previously defined pathogenic TBX6 compound heterozygous variants. All the eight patients with TACS had the typical TACS clinical feature of hemivertebrae in the lower part of the spine. These patients received posterior hemivertebra resection combined with segmental fusion. Follow-ups revealed satisfactory correction without postoperative complications.ConclusionWe observed a 6.6% prevalence of TACS in our CS cohort. Follow-ups further highlighted that surgical treatment of hemivertebra resection combined with segmental fusion performed well with prognosis for patients with TACS. This could provide valuable information for CS individuals with compound heterozygosity in TBX6.

Vertebral anomalies in a natural population of Taricha granulosa (Caudata: Salamandridae)

Developmental plasticity, a common pattern in lissamphibian evolution, results in numerous alternative morphologies among species and also within populations. In the present study, a natural population of the salamander Taricha granulosa (Salamandridae) was examined to detect variation in the vertebral count and to identify potential deformities of their vertebral column. The number of trunk vertebrae varied between 11 and 13 and we recorded 58 individuals with 69 anomalous vertebral elements. These anomalies range from congenital malformations (block vertebrae, unilateral bars, hemivertebrae), extra ossifications in the haemal region, to posttraumatic pathologies. Most osseous pathologies were encountered in the caudal region of the axial skeleton. Our data suggest a high frequency of vertebral malformations in salamanders; however, the identification of the exact causes remains challenging.

Swimbladder non-inflation and its influence on larviculture of mandarin fish (Siniperca chuatsi)

Low occurrence of swimbladder inflation often leads to vertebral skeletal malformations and poor swimming ability, which exert numerous effects on growth, feeding, buoyancy regulation and survival rate of fish larvae. In the present study, 713 mandarin fish (Siniperca chuatsi) larvae samples ranging from 5 to 11 days post hatch (DPH) were collected to detect the rate of swimbladder inflation and calculate the body density of each sample. Swimbladder inflated fish larvae were increased with the development of DPH except 7 DPH, with 86.21% in 11 DPH whereas 27.59% in 5 DPH. Our results indicate that 5–11 DPH is the main stage for swimbladder inflation in mandarin fish larvae, following the onset of exogenous feeding. The body density of swimbladder inflated (SBI) fish larvae (0.983 ± 0.016 g/cm3) was lower than the swimbladder non-inflated (SBN) ones (1.023 ± 0.018 g/cm3), while SBI fish larvae were significant heavier (p < 0.05) than SBN group. These findings suggest that swimbladder non-inflation could significantly influenced the neutrally buoyancy maintained and live bait predation in mandarin fish. The research will contribute to understanding the influence of initial swimbladder inflation on larviculture of mandarin fish.

Congenital hypospadias and vertebral malformation in a Barbados Blackbelly neonate

A male purebred Barbados Blackbelly, twin to another male, was born with obvious external congenital abnormalities. Male twinwas normal. Abnormal lamb had a short torso and spinal column. At 1 week, the lamb was presented with dyspnea and lethargy,and euthanasia was elected. Lamb was submitted for full necropsy and for additional diagnostics. After postmortem, in additionto histopathology, radiographs and computed tomographs were obtained. Lamb had congenital vertebral and occipital malformations,meningitis, hypospadias, and renal malformation. To authors’ knowledge, hypospadias and vertebral malformation inthe Barbados Blackbelly breed has not been reported. Apparently, Barbados Blackbelly breed harbors closely related genetics, thusvigilant monitoring for genetic malformations is suggested.

EP188: Novel HECW2 variant presenting with tachypnea and multisystemic congenital malformations

HECW2, otherwise known as NEDL2, encodes for a member of the HECT family of E3 ubiquitin ligases and stabilizes p73, a key mediator in neurodevelopment. HECW2 is primarily expressed in the brain, heart, and lungs. Heterozygous variants have been associated with developmental delays, intellectual disability, epilepsy, hypotonia, scoliosis and dysmorphic features. Systemic complications which have been reported include cardiomyopathy, skeletal abnormalities including pectus excavatum, and various brain abnormalities including white matter disease, cortical atrophy, ex-vacuo ventriculomegaly, and thinning of the corpus callosum. While many reported cases of HECW2-related disorder have been from de novo variants, there have been reports of familial inheritance with variable expressivity. To date, there have been no reported cases of HECW2-related disorder presenting with persistent tachypnea. A newborn male with a history of intrauterine growth restriction born at 39 2/7 weeks gestation to a 31 year old G4P0212 mother and a 35 year old father presented in the perinatal period with unexplained persistent tachypnea, difficulty feeding, persistent diaphoresis and failure to thrive. Pectus excavatum was noted at birth and initial evaluation for the persistent tachypnea showed multiple vertebral anomalies, congenital scoliosis and mild cardiomegaly on chest X-ray. Renal ultrasound demonstrated left central calyceal dilation. Echocardiogram and CT heart with contrast demonstrated multiple abnormalities including anomalous pulmonary venous return with right upper pulmonary vein draining into the superior vena cava (SVC), secundum atrial septal defect (ASD), dilated main pulmonary artery, right atrium and ventricle, mild right and left ventricular hypertrophy, mild tricuspid regurgitation and mild to moderate pulmonary regurgitation. CT imaging also demonstrated severe tracheobronchomalacia associated with left mainstem bronchus compression resulting in air trapping within the left lung. Cardiac catheterization was attempted for possible closure of the patient’s secundum ASD, but was unsuccessful due to inability to capture retroaortic rim. Diagnostic evaluation during catheterization demonstrated mild pulmonary hypertension, normal pulmonary vascular resistance (PVR) and a Qp:Qs of 1.9:1 consistent with pulmonary overcirculation. Tachypnea and significantly increased work of breathing persisted despite initiation of furosemide diuresis to manage pulmonary overcirculation. The patient ultimately required BiPap for respiratory support, though tachypnea persisted. A G-tube was placed to ensure safe formula administration. Additional physical exam findings included hypotonia, macrocephaly, infraorbital creases with almond-shaped eyes, ocular hypertelorism, broad nasal bridge and tip, mild retrognathia, arachnodactyly with larger hands and feet compared to growth centiles and Y-shaped gluteal fold. Family history was remarkable for White ancestry. A maternal half-sister was healthy. A 2 year old brother had speech delay. The patient’s father had a history of mild congenital scoliosis, heart murmur and intellectual disability. The patient’s mother had a history of anemia, heart murmur and learning delays. There was no history of genetic conditions, recurrent pregnancy loss, or infant death. Chromosomal microarray analysis (CMA) demonstrated no clinically significant findings (ISCN: arr[hg19](1-22x2,(X,Y)x1). Trio exome sequencing with mitochondrial analysis, performed from a peripheral blood sample, demonstrated a paternally inherited likely pathogenic variant in HECW2 (NM_020760.1:c.2581 C>T) in exon 11. While this variant has not been previously published as benign or pathogenic, in silico analysis demonstrated a potential deleterious effect of the arginine to tryptophan substitution on structure and/or function. Mitochondrial analysis was negative/normal. We present the first documented case of HECW2-related disorder presenting with perinatal tachypnea. The patient’s hypotonia, feeding difficulties, dysmorphic features, pectus excavatum, vertebral malformations, scoliosis, and cardiac involvement correlate with previously described manifestations of HECW2-related disorder.

Reporte de caso: Recién nacido con asociación VACTERL y traqueomalacia

VACTERL association is the non-random co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, renal and limb congenital malformations, and in addition may be associated with tracheomalacia. The aim of this report is to describe the presence of congenital malformations in a case of VACTERL and tracheomalacia association. We report the case of a newborn whose adolescent mother reported occasional alcohol consumption. At birth he received CPR with orotracheal intubation and was diagnosed with VACTERL association and sepsis, which was treated with antibiotics. Since birth he presented stridor and at one month of life, the diagnosis of tracheomalacia was confirmed by laryngoscopy. We conclude that VACTERL association in a newborn may be accompanied by some other malformation, such as tracheomalacia, and its detection is essential for proper management and prevention of complications.

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.

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic variants in MYH3. Twelve novel pathogenic variants in MYH3 (NM_002470.4) were identified: three of them were de novo or inherited in autosomal dominant way and nine were inherited in autosomal recessive way. The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions. All monoallelic variants caused significantly decreased SMAD3 phosphorylation, which is consistent with the previously proposed pathogenic mechanism of impaired canonical TGF-β signaling. Most of the biallelic variants were predicted to be protein-truncating, while one missense variant c.4244T>G,p.(Leu1415Arg), which was inherited in an autosomal recessive way, was found to alter the phosphorylation level of p38, suggesting an inhibition of the non-canonical pathway of TGF-β signaling. In conclusion, the identification of 12 novel pathogenic variants and overlapping phenotypes in 17 affected individuals from 10 unrelated families expands the mutation and phenotype spectrum of MYH3-associated skeletal disorders. We show that disturbances of canonical or non-canonical TGF-β signaling pathways are involved in pathogenesis of MYH3-associated skeletal fusion (MASF) syndrome.

Prenatal ultrasonographic manifestations and genetic analysis of eight fetuses with 16p11.2 microdeletions

To analyze the intrauterine phenotype and genotype of eight fetuses carrying a 16p11.2 microdeletion. 5100 fetuses undergoing routine prenatal diagnosis were subjected to single nucleotide polymorphism-based microarray (SNP-array) analysis. Fetuses harboring a 16p11.2 microdeletion were analyzed for their ultrasonographic characteristics. Eight fetuses were found to harbor a microdeletion in the 16p11.2 region. Among these, six had a typical 500-600 kb deletion, while the remaining two had an atypical 220 kb deletion at the distal part of 16p11.2. Four fetuses showed vertebral malformations, two had mild left ventriculomegaly, one had hydrocephalus, and one had pulmonary valve stenosis with regurgitation. The parents of five fetuses have accepted pedigree verification, and the results confirmed that the 16p11.2 microdeletions carried by fetuses all had a de novo origin. The intrauterine phenotypes of fetuses carrying a 16p11.2 microdeletion may be variable, and the deletion can be effectively detected with the SNP-array assay.

Unusual cause of dorsal compressive myelopathy - Double butterfly vertebra mimicking vertebral fracture

Structural developmental anomalies affecting the vertebral column resulting in malformed vertebrae are numerous. It can arise secondary to errors of vertebral formation, fusion and/or segmentation and developmental variation. These anomalies can occasionally mimic acute trauma and predispose the affected individual to compressive myelopathy. A butterfly vertebrae is a rare form of congenital vertebral segmentation anomaly resulting from symmetric fusion defect. It can easily be confused with burst fracture, hence though rare, we should be aware of this anomaly for a correct diagnosis while treating a patient.

MEDIASTINAL ENTERIC CYST: AN UNCOMMON CAUSE OF RECURRENT LOWER RESPIRATORY TRACT INFECTIONS IN CHILDREN

Enteric cysts in posterior mediastinum are rare congenital anomalies in children. A wide range of clinical manifestations can be found ranging from absence of symptoms to life threatening respiratory distress. We report a child case who had recurrent lower respiratory tract infections due to mediastinal enteric cyst accompanied by vertebral defects. A 6-year-old girl presented to the Clinic with a history of cough, fever and left chest pain. She had recurrent episodes of lower respiratory tract infections in the past. On physical examination no breath sounds were heard over the left chest. Chest x-ray revealed a left upper lobe atelectasis. A chest computed tomography scan showed a cystic mass in the left posterior mediastinum associated with cervicothoracic vertebral malformations. Thoracotomy was performed and the cyst was excised. Histopathology report revealed the diagnosis of enteric cyst. The patient recovered well from the surgery and was free of respiratory symptoms after that. Although mediastinal enteric cysts are uncommon conditions, it is essential to be considered in the differential diagnosis of respiratory distress among children. Clinicians should always keep in mind that the presence of associated cervical or thoracic vertebral anomalies may represent an important early clue to the diagnosis. The tendency of mediastinal enteric cyst to enlarge and cause subsequent respiratory distress is sufficient reason for early operative treatment and should be undertaken before the complications occur. Key words: Enteric cyst, lower respiratory tract infections, thoracotomy, children.

Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series

Terminal 6q deletion is a rare genetic condition associated with a neurodevelopmental disorder characterized by intellectual disability and structural brain anomalies. Interestingly, a similar phenotype is observed in patients harboring pathogenic variants in the DLL1 gene. Our study aimed to further characterize the prenatal phenotype of this syndrome as well as to attempt to establish phenotype-genotype correlations. We collected ultrasound findings from 22 fetuses diagnosed with a pure 6qter deletion. We reviewed the literature and compared our 22 cases with 14 fetuses previously reported as well as with patients with heterozygous DLL1 pathogenic variants. Brain structural alterations were observed in all fetuses. The most common findings (>70%) were cerebellar hypoplasia, ventriculomegaly, and corpus callosum abnormalities. Gyration abnormalities were observed in 46% of cases. Occasional findings included cerebral heterotopia, aqueductal stenosis, vertebral malformations, dysmorphic features, and kidney abnormalities. This is the first series of fetuses diagnosed with pure terminal 6q deletion. Based on our findings, we emphasize the prenatal sonographic anomalies, which may suggest the syndrome. Furthermore, this study highlights the importance of chromosomal microarray analysis to search for submicroscopic deletions of the 6q27 region involving the DLL1 gene in fetuses with these malformations.

Spinal malformations in a naturally isolated Neotropical fish population.

Fish populations that reside in completely isolated freshwater ecosystems are rare worldwide. The Vila Velha State Park (VVSP), located in southern Brazil, is recognized for its arenitic formations called sinkholes (furnas), which are completely isolated. Fish populations within, such as those of Psalidodon aff. fasciatus, often develop vertebral malformations due to this isolation from other conspecifics and other species. In this study, we analyzed geometric morphology in digital radiographs to identify congenital deformations of Psalidodon aff. fasciatus in Furna 2 of VVSP. We found many fish with spinal deformities, including wide variation in the number of caudal vertebrae and corporal deformations related to a flattened body and spinal curvature. Females were more affected than males. We also demonstrated that these deformations reflect inbreeding and an absence of gene flow in the population. In conclusion, isolated populations such as fish species in furnas are potential models for evo-devo research.

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final enzyme in the de novo NAD synthesis pathway and, therefore, plays an important role in NAD metabolism and organ embryogenesis. Biallelic mutations in the NADSYN1 gene have been reported to be causative of congenital organ defects known as VCRL syndrome (Vertebral-Cardiac-Renal-Limb syndrome). Here, we analyzed the genetic variants in NADSYN1 in an exome-sequenced cohort consisting of patients with congenital vertebral malformations (CVMs). A total number of eight variants in NADSYN1, including two truncating variants and six missense variants, were identified in nine unrelated patients. All enrolled patients presented multiple organ defects, with the involvement of either the heart, kidney, limbs, or liver, as well as intraspinal deformities. An in vitro assay using COS-7 cells demonstrated either significantly reduced protein levels or disrupted enzymatic activity of the identified variants. Our findings demonstrated that functional variants in NADSYN1 were involved in the complex genetic etiology of CVMs and provided further evidence for the causative NADSYN1 variants in congenital NAD Deficiency Disorder.

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.

Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant (CNV) at chromosome 16p11.2 has been implicated in CVMs and recent studies identified a compound heterozygosity of 16p11.2 microdeletion and TBX6 variant/haplotype causing CS in multiple cohorts, which explains about 5–10% of the affected cases. Here, we studied the genetic etiology of CS by analyzing CNVs in a cohort of 67 patients with congenital hemivertebrae and 125 family controls. We employed both candidate gene and family-based approaches to filter CNVs called from whole exome sequencing data. This identified 12 CNVs in four scoliosis-associated genes (TBX6, NOTCH2, DSCAM, and SNTG1) as well as eight recessive and 64 novel rare CNVs in 15 additional genes. Some candidates, such as DHX40, NBPF20, RASA2, and MYSM1, have been found to be associated with syndromes with scoliosis or implicated in bone/spine development. In particular, the MYSM1 mutant mouse showed spinal deformities. Our findings suggest that, in addition to the 16p11.2 microdeletion, other CNVs are potentially important in predisposing to CS.

Co-Existence of a Rudimentary Non-Communicating Horn with a Unicornuate Uterus in Association with 2 Components of the VACTERL Association: A Case Report

The prevalence of congenital uterine anomalies has been reported as 6.7% in the general population. The unicornuate uterus accounts for 2.4-13% of all Mullerian anomalies and has a prevalence of 1:1000. A unicornuate uterus may be present alone or with a rudimentary horn and 75-90% of rudimentary horns are non-communicating. A pregnancy in the rudimentary horn may lead to uterine rupture, haemoperitoneum with a high risk of maternal mortality. The association of a unicornuate uterus with a non-communicating uterine horn to the VACTERL association of defects (vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies and limb defects) has been described only twice in the literature. We report a patient who was born with an extra thumb and had a trachea-bronchial remnant with oesophageal stenosis that were both operated on earlier, and they were associated with a non-communicating rudimentary uterine horn. To the best of our knowledge, this is the third case reported in the literature of a VACTERL association to a unicornuate uterus with a non-communicating functional rudimentary horn. Given the high risk for the patient if pregnant an early diagnosis is paramount. This case highlights the importance of considering Mullerian defects in the young patient born with components of the VACTERL association.

Transthoracic Vertebral Distraction and Stabilization in 10 Dogs with Congenital Thoracic Vertebral Malformations.

The aim of this study was to describe the surgical technique and outcomes of dogs with congenital thoracic vertebral body malformations (CTVBM) treated with unilateral vertebral distraction and stabilization with monocortical screws and polymethylmethacrylate (PMMA). Medical records of 10 client-owned dogs with CTVBM were retrospectively searched for signalment, history, neurological examination, neurological grade based on the modified Frankel scale (MFS), diagnostic method, CTVBM location, Cobb's angle, and vertebral canal angle (VCA), surgical procedure, complications and long-term follow-up. One dog suffered cardiac arrest 24 hours post-surgery and died. Median follow-up in nine dogs was 26.5 months (12-50 months). Cobb's angle improved from 33-83 to 10-46 degrees and the VCA ratio from 97-138 to 122-164 degrees. The MFS improved from 3 (n = 3)-4 (n = 7) to 4 (n = 2)-6 (n = 7). Seven dogs recovered full function. Nine dogs improved after surgery compared with preoperative status, recovering ambulation when lost or achieving normal neurological examination in seven cases. No complications were reported during the follow-up period (12-50 months). Unilateral transthoracic vertebral distraction and stabilization with monocortical screws and PMMA for treatment of compressive myelopathy due to CTVBM achieved long-term neurological improvement in 9 of 10 dogs.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia

Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Use of torso orthoses in the treatment of congenital spinal deformities: A literature review

BACKGROUND: Congenital malformations of the spine require urgent treatment, despite the popularity of this problem. The choice of the term and method of surgical treatment of congenital spinal deformities with vertebral malformations does not have diametrically opposed views in the domestic and foreign literature, but the scientific discussion continues regarding the use of orthotics. Currently, several designs of orthoses on the trunk are known worldwide, which can be used not only for idiopathic but also for congenital scoliosis. А unified view of the use of this type of complex treatment is necessary, but there are opposite opinions in the scientific literature.&#x0D; AIM: This study aimed to analyze publications that present the use of torso orthoses in the treatment of congenital malformations of the spine.&#x0D; MATERIALS AND METHODS: We searched for data in the open electronic databases of PubMed and e-LIBRARY using the following keywords and phrases: congenital deformity of the spine, congenital scoliosis, orthosis, and effectiveness of orthosis. The search covered 30 years of literature.&#x0D; RESULTS: Several authors have reported a significant correction of the congenital curves using orthotics, but this issue has not been sufficiently studied and is still at the research stage. Some specialists consider the formation or progression after the operation of compensatory counter-curve above or below the established metal structure, which can be corrected not only by repeated surgery, but also by using orthoses.&#x0D; CONCLUSIONS: There is a clear trend toward complex treatment of children with isolated congenital malformations of the spine, including a reasonable combination of surgical treatment and orthotics. In Europe and Russia, preference is given to the Rigo system Cheneau brace.

The presence, morphology and clinical significance of vertebral body malformations in an Australian population of French Bulldogs and Pugs.

To describe the incidence, morphology and clinical significance of congenital vertebral malformations (CVM) in two breeds of brachycephalic dogs presenting to a referral veterinary hospital. Prospective cohort study series. Forty-nine French Bulldogs and Pugs were prospectively evaluated and placed in one of two groups based on whether or not they presented for neurological signs referable to spinal cord disease. A computed tomography (CT) of their entire spine was obtained and the presence and classification of CVM along with the degree of spinal kyphosis recorded for all dogs. Statistical analysis was performed to identify clinical associations between these factors (P < 0.05). CVM were prevalent across both breeds with the French Bulldog having more malformations than the Pug (Kruskal-Wallis nonparametric analysis of variance, P < 0.0001). Breed associated vertebral malformation subtypes included butterfly subtype in French Bulldogs (Chi-square, P=0.0002), and transitional subtype in Pugs (odds ratio, 22.7; P=0.000). A new subtype, dorsal wedge, was observed in 12 cases. The presence, number and subtype of vertebral malformation were not reliable for predicting the development of neurological signs across both breeds (Chi-square, P > 0.05). However, spinal kyphosis >35° calculated via Cobb angle was associated with Pugs that had neurological deficits (Chi-square, P=0.028). Congenital vertebral malformations largely appear to be incidental findings in this population of French Bulldogs but are of more significance in the Pug breed when spinal kyphosis is >35°. French Bulldogs that have spinal cord disease and CVM are more likely to have pathology distant to CVM with intervertebral disc herniation most common.