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Serpentine-like syndrome, characterized by the combination of intrathoracic stomach, a notably short esophagus anomaly, splenic abnormalities, and cervical spine malformations, has been associated with a high mortality rate since its identification in 2008. This report presents the case of a remarkable patient who recently celebrated her fifth birthday, marking her as the oldest documented individual with this syndrome to date. Highlighting the significance of comprehensive evaluations for concurrent malformations, the report discusses potential treatment modalities and challenges inherent in managing patients with this intricate syndrome. A comprehensive review of previously published cases is provided, comparing surgical interventions, causes of death, and age at the time of demise. This report underscores the importance of ongoing research and collaborative efforts to optimize outcomes for individuals afflicted with serpentine-like syndrome.

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Background: Chiari (type I) malformations are typically congenital. Occasionally, however, tonsillar herniation can arise secondary to cerebrospinal fluid leakage, posterior fossa or intraventricular mass lesions, or other etiologies. We present the first-ever case of an intramedullary subependymoma at the cervicomedullary junction associated with vertebral bone abnormalities and an acquired secondary Chiari malformation. Case Description: A 60-year-old woman presented with a 3-year history of occipital, tussive headaches. Preoperative imaging was negative for mass lesions but demonstrated a Chiari malformation. She was recommended posterior fossa decompression with tonsillar shrinkage. During surgery, an intramedullary mass was incidentally observed, obstructing the obex at the cervicomedullary junction. Histopathological analysis of the resected lesion revealed a diagnosis of subependymoma. Conclusion: Subependymomas can sometimes present a diagnostic challenge due to their subtle appearance in neuroimaging. Only rarely are such masses associated with an acquired Chiari malformation. No such case has previously been reported. We present a literature review on acquired Chiari malformations and discuss their management.

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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.

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OBJECTIVE: Microtia is a congenital condition known to be associated with vertebral anomalies and congenital syndromes, most prominently hemifacial microsomia. There is controversy, however, on whether to screen with spinal imaging. Additionally, microtia ear reconstruction utilizes rib harvesting that could potentially worsen pre-existing vertebral and rib anomalies, specifically scoliosis. We report on the prevalence and characteristics of vertebral anomalies among microtia patients at a tertiary pediatric center. STUDY DESIGN: Retrospective case review with literature review. SETTING: Tertiary pediatric referral center. METHODS: A review of 425 children with microtia was conducted, characterized as either syndromic or nonsyndromic. Data included demographics, spinal imaging performed, indications, anomalies detected, and microtia repair. RESULTS: Among 425 microtia patients, 24.5% were syndromic with an average age of 9.7 years. Only 18.4% of all patients had spinal imaging performed (50% syndromic vs 8.1% nonsyndromic). Overall, 10.6% had a vertebral anomaly with a 57.7% detection rate (67.3% syndromic vs 38.5% nonsyndromic). The most common anomaly was scoliosis, with a prevalence of 7.8%. Fusion defects and rib deformities were the next most prominent. Microtia repair, most commonly with an autologous rib graft, was performed in 21.6% of the cohort. However, only 19.2% had spinal imaging and 16.7% with a vertebral anomaly. CONCLUSION: Children with microtia are at a greater risk of vertebral abnormalities. Scoliosis prevalence in isolated microtia is comparable to the general population (2%-3%) but greatly increased with genetic syndromes. Screening for vertebral anomalies should be considered when planning microtia reconstructions, especially in the syndromic population.

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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.

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Introduction: Congenital muscular torticollis (CMT) is the most common cause of torticollis in infants; other causes, including osseous, ocular, and central nervous system torticollis can easily be overlooked. We report two rare cases of CMT with concurrent osseous or ocular torticollis. Case 1: A 1-month-old female infant with a right neck mass and right-tilting head posture was referred. Neck ultrasonography showed diffuse hypertrophy and hyperechoic findings on the right sternocleidomastoid (SCM) muscle, which was consistent with right CMT. A clavicle X-ray imaging was conducted to identify an associated fracture due to birth trauma on the same day and a suspected congenital vertebral anomaly was coincidentally found. Subsequent three-dimensional computed tomography of the cervical spine showed a T1 hemivertebra causing the right-tilting head. The patient was diagnosed with the concurrent manifestation of CMT and congenital osseous torticollis. Case 2: A 3-month-old male infant with a 20° head tilt to the right with a limited cervical range of motion was referred. Neck ultrasonography showed a fibromatosis colli in the right SCM, suggesting CMT. He proceeded to physical therapy for seven months; however, there was little clinical improvement in his head and neck posture. The patient underwent an additional ophthalmologic examination and orbital magnetic resonance imaging (MRI) at 10 months of age. The result showed congenital agenesis of the left fourth cranial nerve with hypoplasia of the superior oblique muscle causing the right-tilting of the head. Ultimately, the boy was diagnosed with a concurrent manifestation of CMT and congenital ocular torticollis. Conclusion: Unless careful examinations are conducted, congenital vertebral anomalies and congenital agenesis of the fourth cranial nerve can go unnoticed in the present two cases. If a patient with CMT displays unusual features or does not respond to physical therapy, clinicians should consider not only a differential diagnosis but also concurrence with other causes of congenital torticollis.

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PURPOSE: This study systematically analyzed and assessed the interrelationships among vertebral anomaly location, congenital scoliosis (CS) type and associated abnormality prevalence. METHODS: We retrospectively extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010-December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram, urogenital ultrasound and systemic physical examination. We analyzed information on demographics, CS type, associated anomalies and vertebral anomaly location. RESULTS: Cervical, thoracic and lumbar vertebral anomalies were found in 5.7%, 78.1% and 33.6% of patients, respectively. 82.7% had one region involved. 59.5% with cervical malformations had mixed defects and 61.1% with lumbar malformations exhibited failure of formation. The musculoskeletal defect prevalence was 28.4%, 19.1% and 9.0% in patients with cervical, thoracic and lumbar anomalies. The intraspinal defect prevalence was 33.4% and 20.7% for thoracic and lumbar anomalies. 86.5% of patients with cervical anomalies had more than one region involved, while 78.1% and 62.2% with thoracic and lumbar anomalies, respectively, had only one region involved. CONCLUSIONS: Cervical malformations had higher prevalence of mixed defects, musculoskeletal and intraspinal defects and multi-region involved. Thoracic malformations had higher prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Lumbar vertebral malformation patients had much lower prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Cervical malformation was a risk factor for more associated anomalies and more severe vertebral anomalies, which deserves more attention from surgeons in outpatient clinic.

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PURPOSE: The objective of this article is to report associated anomaly incidences of a large CS cohort and analyze interrelationships among vertebral anomaly types and associated abnormalities. METHODS: We retrospectively searched and extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010 to December 2019. All patients have taken spine X-ray, CT, MRI, echocardiogram, urogenital ultrasound, and systemic physical examination. We analyzed information on demographics, CS types, and associated anomalies. RESULTS: CS type was found to be 49.1% for failure of formation (FF), 19.5% for failure of segmentation (FS), and 31.4% for mixed defects (MD). Intraspinal defects were found in 29.4% patients (16.0% for FF, 45.4% for FS, 40.5% for MD), cardiac in 13.7% (12.3% for FF, 14.3% for FS, 15.6% for MD), genitourinary in 5.8% (4.1% for FF, 6.0% for FS, 8.4% for MD), gastrointestinal in 3.6% (4.7% for FF, 1.6% for FS, 3.0% for MD), and musculoskeletal in 16.4% (10.3% for FF, 19.9% for FS, 23.7% for MD). The intraspinal and musculoskeletal defect incidences were significantly higher in patients with failure of segmentation and mixed defects. We also observed a decreasing trend for intraspinal and musculoskeletal defect incidences as well as a tendency for more failure of formation and less failure of segmentation from 2010 to 2019. CONCLUSIONS: The intraspinal and musculoskeletal defect incidences were higher in patients with failure of segmentation and mixed defects. Strong interrelationships were found between intraspinal and musculoskeletal defects and among cardiovascular, genitourinary, and gastrointestinal defects. From 2010 to 2019, the proportion of patients with failure of formation increased significantly, causing a decrease in the intraspinal and musculoskeletal defect incidences over time. Female sex, failure of segmentation, and mixed defects could be considered risk factors for more associated anomalies in CS individuals, which would help surgeons in medical management and prenatal consultation.

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Congenital cervical vertebral malformations (CCVM) have been infrequently reported in veterinary medicine, with limited examples of axis spinous process malformations. The objective of this retrospective cross-sectional study was to describe the radiological characteristics, prevalence, and clinical relevance of a characteristic axis vertebral malformation in a sample of English Bull Terriers (EBTs). Medical records and diagnostic imaging studies of the cervical vertebral column of EBTs presenting for any reason were reviewed and described. Based on evaluation of the images, EBTs were divided in two groups; axis spinous process malformation and normal cases. Referring veterinary surgeons were contacted for long-term follow-up information. A total of 27 cervical radiographs, 23 CT, and nine MRI studies from 53 EBTs were reviewed. An axis spinous process malformation, characterized by a linear defect of varying length along the base of the spinous process, was identified in 22 of 53 EBTs (41.5%). There was no significant difference in age, body weight, or sex (P < .05) between EBTs with and without the malformation. No traumatic causes or clinical signs were identified in EBTs with the malformation that could be directly attributed to it. To the authors' knowledge, this is the first report of a malformation of the axis spinous process in a sample of EBTs. The malformation was not associated with clinical signs and should not be misinterpreted as a traumatic vertebral fracture or other pathology.

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Congenital lumbar hernia is a rare anomaly consisting of protrusion of abdominal organs or extraperitoneal tissue through a defect in the lateral abdominal wall. The majority of affected patients have additional anomalies in a pattern described as the lumbocostovertebral syndrome. We report four patients born to mothers with poorly controlled diabetes with congenital lumbar hernia. All patients exhibited features of lumbocostovertebral syndrome with lumbar hernia, multiple vertebral segmentation anomalies in the lower thoracic and/or upper lumbar spine, rib anomalies, and unilateral renal agenesis. Additional anomalies present in the patients included preaxial hallucal polydactyly, abnormal situs, and sacral dysgenesis, anomalies known to be associated with diabetic embryopathy. At least 11 other patients have been previously reported with the lumbocostovertebral syndrome in the setting of maternal diabetes. We suggest that congenital lumbar hernia and the lumbocostovertebral syndrome are related to diabetic embryopathy.

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Researchers have identified a subset of Holstein having a range of skeletal deformities, including vertebral anomalies, referred to as complex vertebral malformation due to mutations in the SLC35A3 gene. Here, we report the first case in humans of SLC35A3-related vertebral anomalies. Our patient had prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Clinical exome sequencing revealed a novel missense homozygous mutation in SLC35A3. Follow-up biochemical analysis confirmed abnormal protein glycosylation, consistent with a defective Golgi UDP-GlcNAc transporter, validating the mutations. Congenital disorders of glycosylation, including SLC35A3-CDG, can present as a wide phenotypic spectrum, including skeletal dysplasia. Previously reported patients with SLC35A3-CDG have been described with syndromic autism, epilepsy, and arthrogryposis.

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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.

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Caudal regression syndrome is a rare congenital malformation with varying degrees of early gestational developmental failure. It is also known as sacral agenesis or caudal dysplasia. The cause of this malformation is thought to be defects in neuralization around the 28th day of the gestational period. Although maternal uncontrolled diabetes, genetic predisposition and vascular hypoperfusion are the possible risk factors, actual pathogenesis is unclear. CRS is generally diagnosed at prenatal assessment, but also a varying number of newborns with some degree of anomaly may be presented. In our case, we diagnosed a caudal regression syndrome fetus early in the second trimester. Determination of the pathology early in the gestational age gives parents a chance for termination of pregnancy. Although diabetes mellitus is the major risk factor for CRS, as in our case, sporadic presentations may occur. So clinicians should consider CRS when CRL is shorter than expected and incomplete vertebral ossification is observed both in gray scala and 3D imaging ultrasonography.