Cluster analysis describes constellations of cardiac anomalies presenting in spinal anomaly patients.

BACKGROUND: Cardiac anomalies are prevalent in patients with bony spinal anomalies. Prior studies evaluating incidences of bony congenital anomalies of the spine are limited. The Kids' Inpatient Database (KID) yields national discharge estimates of rare pediatric conditions like congenital disorders. This study utilized cluster analysis to study patterns of concurrent vertebral anomalies, anal atresia, cardiac malformations, trachea-esophageal fistula, renal dysplasia, and limb anomalies (VACTERL anomalies) co-occurring in patients with spinal congenital anomalies. METHODS: Retrospective review of KID 2003-2012. KID-supplied hospital- and year-adjusted weights allowed for incidence assessment of bony spinal anomalies and cardiac, gastrointestinal, urinary anomalies of VACTERL. K-means clustering assessed relationships between most frequent anomalies within bony spinal anomaly discharges; k set to n - 1(n = first incidence of significant drop/little gain in sum of square errors within clusters). RESULTS: There were 12,039,432 KID patients 0-20 years. Incidence per 100,000 discharges: 2.5 congenital fusion of spine, 10.4 hemivertebra, 7.0 missing vertebra. The most common anomalies co-occurring with bony vertebral malformations were atrial septal defect (ASD 12.3%), large intestinal atresia (LIA 11.8%), and patent ductus arteriosus (PDA 10.4%). Top congenital cardiac anomalies in vertebral anomaly patients were ASD, PDA, and ventricular septal defect (VSD); all three anomalies co-occur at 6.6% rate in this vertebral anomaly population. Cluster analysis revealed that of bony anomaly discharges, 55.9% of those with PDA had ASD, 34.2% with VSD had PDA, 22.9% with LIA had ASD, 37.2% with ureter obstruction had LIA, and 35.5% with renal dysplasia had LIA. CONCLUSIONS: In vertebral anomaly patients, the most common co-occurring congenital anomalies were cardiac, renal, and gastrointestinal. Top congenital cardiac anomalies in vertebral anomaly patients were ASD, PDA, and VSD. VACTERL patients with vertebral anomalies commonly presented alongside cardiac and renal anomalies.

Vertebral column resection for the treatment of severe spinal deformity.

UNLABELLED: The ability to treat severe pediatric and adult spinal deformities through an all-posterior vertebral column resection (VCR) has obviated the need for a circumferential approach in primary and revision surgery, but there is limited literature evaluating this new approach. Our purpose was therefore to provide further support of this technique. We reviewed 43 patients who underwent a posterior-only VCR using pedicle screws, anteriorly positioned cages, and intraoperative spinal cord monitoring between 2002 and 2006. Diagnoses included severe scoliosis, global kyphosis, angular kyphosis, or kyphoscoliosis. Forty (93%) procedures were performed at L1 or cephalad in the spinal cord (SC) territory. Seven patients (18%) lost intraoperative neurogenic monitoring evoked potentials (NMEPs) data during correction with data returning to baseline after prompt surgical intervention. All patients after surgery were at their baseline or showed improved SC function, whereas no one worsened. Two patients had nerve root palsies postoperatively, which resolved spontaneously at 6 months and 2 weeks. Spinal cord monitoring (specifically NMEP) is mandatory to prevent neurologic complications. Although technically challenging, a single-stage approach offers dramatic correction in both primary and revision surgery of severe spinal deformities. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.

Embryology of the spine and associated congenital abnormalities.

BACKGROUND CONTEXT: The spine is a complex and vital structure. Its function includes not only structural support of the body as a whole, but it also serves as a conduit for safe passage of the neural elements while allowing proper interaction with the brain. Anatomically, a variety of tissue types are represented in the spine. Embryologically, a detailed cascade of events must occur to result in the proper formation of both the musculoskeletal and neural elements of the spine. Alterations in these embryologic steps can result in one or more congenital abnormalities of the spine. Other body systems forming at the same time embryologically can be affected as well, resulting in associated defects in the cardiopulmonary system and the gastrointestinal and genitourinary tracts. PURPOSE: This article is to serve as a review of the basic embryonic development of the spine. We will discuss the common congenital anomalies of the spine, including their clinical presentation, as examples of errors of this basic embryologic process. STUDY DESIGN/SETTING: Review of the current literature on the embryology of the spine and associated congenital abnormalities. METHODS: A literature search was performed on the embryology of the spine and associated congenital abnormalities. RESULTS: Development of the spine is a complex event involving genes, signaling pathways and numerous metabolic processes. Various abnormalities are associated with errors in this process. CONCLUSION: Physicians treating patients with congenital spinal deformities should have an understanding of normal embryologic development as well as common associated abnormalities.

Congenital spine deformities: scoliosis, kyphosis, and lordosis.

By definition, congenital spine deformities-scoliosis, kyphosis, and lordosis-are due to abnormal vertebral development. Thus, affected children tend to have a curvature noted much earlier in life than typical patients with idiopathic scoliosis. This early development of the deformity has resulted in a tendency for the young child with congenital deformities to receive less than optimal care. These curves must not be allowed to progress. In many cases, early fusion is necessary, which is preferable to allowing severe curves to develop.

Pediatric spinal deformities.

Pediatric spinal deformity results from multiple conditions including congenital anomalies, neuromuscular disorders, skeletal dysplasia, and developmental disorders (idiopathic). Pediatric spinal deformities can be progressive and cause pulmonary compromise, neurological deficits, and cardiovascular compromise. The classification and treatment of these disorders have evolved since surgical treatment was popularized when Harrington distraction instrumentation was introduced. The advent of anterior-spine instrumentation systems has challenged the concepts of length of fusion needed to arrest curvature progression. Segmental fixation revolutionized the surgical treatment of these deformities. More recently, pedicle screw-augmented segmental fixation has been introduced and promises once again to shift the standard of surgical therapy. Recent advances in thoracoscopic surgery have made this technique applicable to scoliosis surgery. Not only has surgical treatment progressed but also the classification of different forms of pediatric deformity continues to evolve. Recently, Lenke and associates proposed a new classification for adolescent idiopathic scoliosis. This classification attempts to address some of the shortcomings of the King classification system. In this article the authors review the literature on pediatric spinal deformities and highlight recent insights into classification, treatment, and surgery-related complications.

Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.

STUDY DESIGN: A review of clinical publications, current knowledge, and recent developments regarding the etiology of ischiovertebral dysplasia was combined with a clinical review of the condition. OBJECTIVE: To acquaint orthopedic spine surgeons with identification patterns of ischiovertebral dysplasia in order to provide them with guidelines about spine management and which complications to expect. SUMMARY OF BACKGROUND DATA: Ischiovertebral dysplasia is a rare skeletal dysplasia that may appear in a sporadic fashion or be inherited with an autosomal dominant inheritance pattern. It is defined by the association of an ischiopubic ramus hypoplasia and a vertebral dysplasia. It leads to a specific spine deformity whose management and complications should be clarified. METHODS: Thirty consecutive patients from 0 to 31 years of age with ischiovertebral dysplasia were included from 5 centers specialized in congenital spinal deformities. Frontal and sagittal Cobb angles before treatment, natural history of the curves, therapeutic options, and their complications were systematically analyzed. RESULTS: All the patients had a vertebral dysplasia and 28 of them developed a spinal deformity. This deformity was an extremely severe thoracic kyphoscoliosis in 25 cases. The other deformities were a thoracolumbar scoliosis in 1 case and a thoracolumbar kyphosis in 2 cases. The management of the thoracic kyphoscoliosis was always challenging and complications included death by respiratory failure (3 cases) and neurological impairment (9 cases). CONCLUSION: Recognizing the occurrence of ischioverterbral dysplasia is very important to allow for dedicated treatment. The authors advocate preoperative distraction and circumferential fusion to prevent progression of the curve and to avoid the potentially fatal sequelae associated with this disorder. LEVEL OF EVIDENCE: 4.

Hemivertebra excision with short-segment spinal fusion through combined anterior and posterior approaches for congenital spinal deformities in children.

To evaluate the therapeutic results of hemivertebra excision through combined anterior and posterior approach followed by short-segment spinal fusion with transpedicular instrumentation in children. Clinical and radiological evaluations were conducted before and after operation and at the follow-up examination. Cobb angles of segmental curve, total main curve, compensatory curves (cranial and cauda) and kyphosis were recorded. All the cases showed satisfactory results, the mean Cobb angle of segment curve was 45.3° before surgery and 14.9° after surgery with 67.1% correction, and 13.5° at the final follow-up assessment with 70.2% correction. Total main curves improved from 47.6 to 18.2° with 61.8% correction, and 16.0° at the final follow-up. Cranial and caudal compensatory curves were improved gradually during follow-up. Kyphosis of the spine also improved obviously. If the operation was performed before the maturity of bone, the secondary spinal deformities could be effectively avoided.

Posterior vertebral column resection for severe pediatric deformity: minimum two-year follow-up of thirty-five consecutive patients.

STUDY DESIGN: Retrospective review of a prospectively accrued patient cohort. OBJECTIVE: The ability to treat severe pediatric spinal deformity through an all-posterior vertebral column resection (VCR) has obviated the need for a circumferential approach in both primary and revision settings. We examined indications, correction rates, and complications of this challenging procedure in the pediatric population. SUMMARY OF BACKGROUND DATA: Traditionally, severe pediatric spinal deformities were treated through a combined anterior/posterior spinal fusion. METHODS: Between 2000 and 2005, 35 consecutive patients underwent a posterior-only VCR by 1 of 2 surgeons at a single institution. Patients were divided into 5 diagnostic categories: (1) severe scoliosis (S) (n = 2; mean, 115 degrees; range, 79-150 degrees; average flexibility, 12%); (2) global kyphosis (GK) (n = 3; mean, 101 degrees; range, 91-113 degrees; average flexibility, 16%); (3) angular kyphosis (AK) (n = 10; mean, 86 degrees; range, 45-135 degrees, average flexibility, 23%); (4) kyphoscoliosis (KS) (n = 8; mean kyphosis, 103 degrees/scoliosis 87 degrees; mean combined, 190 degrees; range, 144-237 degrees); (5) congenital scoliosis (CS) (n = 12; mean, 43 degrees; range, 23-69 degrees; average flexibility, 20%). There were 20 primary/15 revision surgeries. There were 20 one-level, 11 two-level, and 4 three-level resections. RESULTS: The major curve correction averaged: Group S = 61 degrees/51%, Group GK = 56 degrees/55%, Group AK = 51 degrees/58%, Group KS = 98 degrees/54%, and Group CS = 24 degrees/60%. The average OR time was 460 minutes (range, 210-822), with an average EBL of 691 mL (range, 125-2200). There were no spinal cord-related complications; however, 2 patients (8.5%) lost intraoperative neuromonitoring data during correction with data returning to baseline following prompt surgical intervention. Two patients had implant revisions, 1 for a delayed deep infection at 2 years and the other for implant prominence at 3-year follow-up. CONCLUSION: A posterior-based VCR is a safe but challenging technique to treat severe primary or revision pediatric spinal deformities. Intraoperative SCM (especially motor-evoked potentials) is mandatory to prevent spinal cord-related neurologic complications. Dramatic radiographic and clinical correction of these deformities can be obtained via a posterior-only approach.

Spine deformities in rare congenital syndromes: clinical issues.

STUDY DESIGN: A focused review of the literature with regard to the important system abnormalities of patients with spinal deformities associated with exotic congenital syndromes with additional data from the author's own experience in assessment of patients with rare syndromes treated for thoracic insufficiency syndrome. OBJECTIVES: The objectives of this study are to emphasize important medical considerations that influence the choice of surgical treatment of spinal deformity in patients with exotic congenital syndromes and point out preoperative strategies that reduce treatment morbidity and mortality of these patients. SUMMARY OF BACKGROUND DATA: Individual experience is limited in the treatment of spine abnormality in rare exotic syndromes and the medical aspects of these syndromes that may impact spinal treatment are seldom discussed in detail in the orthopedic literature. For a successful outcome in the treatment of spinal deformity in these unique patients, a working knowledge of the unique pitfalls in their medical care is necessary in order to avoid morbidity and mortality during their treatment. METHODS: The literature was reviewed for 6 exotic congenital syndromes with known or unreported spinal abnormalities and the author's personal 22-years experience of the treatment of thoracic insufficiency syndrome in the relevant congenital syndromes was summarized. RESULTS: Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. Patients with Jeune syndrome have a high rate of proximal cervical stenosis and should undergo screening with cervical spine films at birth. Significant stenosis or instability may require decompression and cervical-occipital fusion. Arthrogryposis may be associated with a severe scoliosis and jaw contracture may make intubation difficult. Larsen syndrome may have early onset scoliosis that is very rigid and requires early intervention. Cervical kyphosis and subluxation may be lethal in these patients and screening radiographs are important. Upper airway abnormalities are an anesthesia concern. Jarcho-Levin syndrome is a thoracic volume depletion deformity due to shortness of the thorax, either a spondylocostal dysostosis variant or spondylothoracic dysplasia. The former has a chaotic congenital scoliosis with varied combination of missing and fused ribs. Although spondylocostal dysostosis has a benign reputation in the literature for respiratory complications, respiratory insufficiency is nevertheless common and 1 death is known from respiratory failure. Spondylothoracic dysplasia seldom has significant scoliosis, but has a mortality rate approaching 50% from respiratory complications due to thoracic insufficiency syndrome. In spite of severe restrictive respiratory disease, adult survivors of spondylothoracic dysplasia appear to do well clinically for unknown reasons. Cerebrocostomandibular syndrome has scoliosis, micrognathia, and thoracic insufficiency syndrome, due to an "implosion" deformity of the thorax from congenital pseudarthrosis of the posterior ribs. CONCLUSION: For optimal patient care, it is necessary to have a clear understanding of exotic congenital syndromes and how they may impact on both the presentation of spinal deformity and the response to treatment, as well as how they may introduce additional morbidity into standard treatment plans. It is clear that with this understanding that preoperative strategies can be employed to enhance the safety of spinal treatment for these unique children.

Cardiac screening in congenital spine disorders.

BACKGROUND: Children with congenital spine disorders are known to have a high prevalence of congenital heart disease. The purpose of this work is to examine the presentation of these cardiac defects. It was our hypothesis that the anomalies are clinically obvious; thus, screening with electrocardiogram (ECG) or echocardiogram for occult disease would prove unnecessary after orthopaedic referral. METHODS: The records and radiographs of 190 consecutive children known to have a congenital vertebral abnormality (excluding myelodysplasia and sacral agenesis) were retrospectively reviewed. Twenty-four children presented to the orthopaedist with a known cardiac anomaly. Of the remaining children, 64 underwent cardiac screening with echocardiogram, 27 underwent screening ECG and pediatric or cardiology evaluation, and 75 underwent evaluation by the orthopaedist only. Level of evidence was case series, level IV. RESULTS: Twenty-four children presented to the orthopaedist with an established diagnosis of congenital heart disease. One child, who underwent echocardiogram, was detected to have a bicuspid aortic valve. This prevalence is consistent with what would be expected in screening the general population with echocardiogram. None of the 27 children screened with ECG and pediatric or cardiology consultation, and none of the 75 who underwent evaluation only by the orthopaedist were detected to have a cardiac abnormality. Also, no additional cardiac abnormalities have been found with follow-up of 2 to 17 years. CONCLUSIONS: The presentation of congenital heart disease associated with congenital spine disorders is general clinically evident and made before the referral to the orthopaedist. Routine referral by the orthopaedist for ECG or echocardiogram is not supported by this work.

Teleosts as models for human vertebral stability and deformity.

Vertebral development is a dynamic and complicated process, and defects can be caused by a variety of influences. Spinal curvature with no known cause (idiopathic scoliosis) affects 2-3% of the human population. In order to understand the etiology and pathogenesis of complex human skeletal defects such as idiopathic scoliosis, multiple models must be used to study all of the factors affecting vertebral stability and deformity. Although fish and humans have many of the same types of offenses to vertebral integrity, they have been overlooked as a resource for study. The most common morphological deformity reported for fish are those that occur during the development of the spinal system, and as with humans, curvature is a common morphological consequence. Here we review spinal curvature in teleosts and suggest that they are an unexploited resource for understanding the basic elements of vertebral stability, deformity, development and genetics. Fish can be a value to vertebral research because they are tractable, have a diversity of non-induced vertebral deformities, and substantial genomic resources. Current animal models lack non-induced deformities and the experimental tractability necessary for genetic studies. The fact that fish are free of an appendicular skeleton should allow for analysis of basic spinal integrity without the biomechanical constraints observed in quadrupedal and bipedal models. To illustrate the point we review human idiopathic scoliosis and the potential contribution teleosts can make for the identification of causes, risk factors, and treatment options.

Goldenhar-associated conditions (hemifacial microsomia) and congenital deformities of the spine.

STUDY DESIGN: We performed a retrospective study of 668 consecutive patients with congenital spine deformities. OBJECTIVES: To determine the prevalence of Goldenhar conditions in patients with congenital spine deformities, and describe the types of vertebral abnormalities and their treatment. SUMMARY OF BACKGROUND DATA: The craniofacial malformations described by Goldenhar can be associated with congenital vertebral anomalies. This nonrandom association represents unilateral errors in the morphogenesis of the spine, the first and second branchial arches. METHODS: The medical records were reviewed, and patients with Goldenhar conditions were identified. The vertebral anomalies causing spine deformity were detected on radiographs. The type and site of the craniofacial abnormalities, other musculoskeletal deformities, and systemic anomalies were recorded. RESULTS: There were 14 patients, including 7 males and 7 females, who had Goldenhar conditions. Thoracic scoliosis was the most common deformity, occurring in 10 patients (71.5%). Of these patients, 8 had an isolated hemivertebra, and the remaining 2 had a unilateral unsegmented bar with contralateral hemivertebra at the same level. There was only 1 patient with lumbar scoliosis caused by a hemivertebra. The side of vertebral anomaly correlated with that of hemifacial microsomia in 5 of 11 patients with scoliosis or kyphoscoliosis. Thoracolumbar kyphosis occurred in 4 patients, including 2 who had posterior hemivertebrae, 1 who had wedge vertebrae, and the remaining who had an anterior unsegmented bar. Thoracolumbar kyphoscoliosis occurred in only 1 patient because of a posterolateral quadrant vertebra. Klippel-Feil syndrome occurred in 6 patients (42.8%). There were 8 patients (57%) who underwent surgical treatment at a mean age of 9.8 years (range 2.9-19). Four patients had undergone a combined anterior-posterior, and 4 had a posterior-only spine arthrodesis. CONCLUSIONS: The prevalence of Goldenhar-associated conditions in patients with congenital spine deformities was 2%. Failures of vertebral segmentation were the most frequent abnormality in the cervical spine, whereas failures of vertebral formation most commonly occurred in the thoracic or thoracolumbar spine.

The treatment of spine and chest wall deformities with fused ribs by expansion thoracostomy and insertion of vertical expandable prosthetic titanium rib: growth of thoracic spine and improvement of lung volumes.

STUDY DESIGN: Prospective clinical trial of vertical expandable prosthetic titanium rib (VEPTR) in patients with combined spine and chest wall deformity with scoliosis and fused ribs. OBJECTIVE: Report the efficacy and safety of expansion thoracostomy and VEPTR surgery in the treatment of thoracic insufficiency syndrome (TIS) associated with fused ribs. SUMMARY OF BACKGROUND DATA: Traditional attitudes toward early-onset combined chest and spine deformity assume that thoracic deformity is best controlled by treatment directed at spine deformity, often involving early spinal arthrodesis. Campbell and others have heightened awareness of the interrelationship between lung, chest, and spine development during growth and characterized TIS as the inability of the thorax to support normal respiration or lung growth. Expansion thoracostomy and VEPTR insertion was developed to directly control both spine and chest wall deformity during growth, while permitting continued vertebral column and chest growth at an early stage. METHODS: Multidisciplinary evaluation of children with combined spine and chest wall deformity included pediatric pulmonologist, thoracic, and orthopedic surgeon evaluations. One or more opening wedge expansion thoracostomies and placement of VEPTR devices were performed as described by Campbell, with repeated device lengthenings during growth. Parameters measured included Cobb angle, length of thoracic spine, CT-derived lung volumes, and in older children pulmonary function tests. RESULTS: Thirty-one patients with fused ribs and TIS were treated, 4 of whom had undergone prior spinal arthrodesis at other institutions with continued progression of deformity. In 30 patients, the spinal deformity was controlled and growth continued in the thoracic spine during treatment at rates similar to normals. Increased volume of the constricted hemithorax and total lung volumes obtained during expansion thoracostomy were maintained at follow-up. Complications included device migration, infection, and brachial plexus palsy. CONCLUSIONS: Expansion thoracostomy and VEPTR insertion with serial lengthening may be the preferred treatment for young children with chest wall deformity and scoliosis associated with fused ribs but requires multidisciplinary care and attention to details of soft tissue management. When indicated, surgical intervention with VEPTR can be considered early in growth, before deformity is severe, since spinal growth will continue with treatment.

The classification of spinal deformities.

Any methods of classification of scoliosis deformity devised should recognise different aetiological and pathological causes of the conditions and their likely impact on the natural history of the spinal curvature. Such classification should aim to aid clinicians in their approach to treatment. Furthermore, any such system must have a high reliability and validity. Several approaches have been reported. Pathological classifications have been devised which relate to the system or tissue affected by the underlying pathology, such as congenital anomalies which affect the skeletal elements of the spine, general neurological problems or muscular disorders. Classification by age of onset has also been adopted, using criteria such as infancy or adolescence. However, most attention has been focussed on structural features of the spine in developing anatomical classifications. Features such as the apex or magnitude of a curvature or its rotation are important clinical signs and are widely used in surgical practice. This paper reviews the different classification reported but make no attempt to justify one as being ideal. However, since the biological processes contributing to the deformity and its subsequent natural history are still unclear, it remains difficult to develop a fully reliable and all embracing system of classification.

[The pathomorphology of congenital spinal defects in relation to future clinical development of the disease]. / Patomorfologia wad wrodzonych kregoslupa w aspekcie przyszlego klinicznego rozwoju choroby.

The authors categorised congenital malformations of the spine into five different pathomorphologic groups basing on a series of 61 cases (age ranging from 1 to 50 years): defects of the vertebra, of the vertebral body, intervertebral synostosis, rib synostosis, and defects of the vertebral arch. A total of over 30 different kinds of malformations were obtained in this classification. In the analysed series 34 patients had a predominant kind of malformation, while in 27 cases mixed malformations were noted. These malformations lead to spine deformities: 21 cases with arch scoliosis, 15 cases with kyphoscoliosis, 13 cases with angular scoliosis and 12 cases with kyphosis. Deformities had a tendency to progress with age. In 20 patients neurological deficits (increased spasticity, spastic paresis, spastic and flaccid paralysis) increased after reaching skeletal maturity. Prognosis as to deformity regression was made difficult be the large variety of different pathomorphologic types of deformity. Only general patterns were visible e.g. a tendency to progress in cases were hemivertebra were found. In cases were more than one type of deformity was noted, growth balance of the spine was not a rule. On the contrary, even small mixed deformities of ten progressed. This paper indicates that most congenital deformities of the spine should be treated operatively, either to correct the deformity or to attain spine growth balance.