Comprehensive Radiological Imaging for the Characterization of Spinal Dysraphism and Associated Anomalies in a Pediatric Case.

Spinal dysraphism is a spectrum of congenital anomalies caused by incomplete neural tube closure during early development, leading to spine and spinal cord defects. These can be broadly categorized into anomalies of gastrulation (including disorders of notochord formation and integration), anomalies of primary neurulation (such as premature disjunction and nondisjunction), combined anomalies of gastrulation and primary neurulation, and anomalies of secondary neurulation. This case report focuses on a 15-year-old male patient who exhibits a range of congenital spinal anomalies of spinal dysraphism spectrum, each contributing to a complex clinical picture. The primary aim of this report is to highlight the critical role of multimodal imaging in the evaluation of such conditions. Detailed imaging studies, particularly magnetic resonance imaging (MRI), are indispensable in accurately diagnosing, guiding surgical planning, and managing the diverse anomalies associated with spinal dysraphism. In this case, imaging findings were pivotal in identifying multiple congenital abnormalities, including scoliosis, butterfly vertebrae, block vertebrae, spina bifida occulta, and diastematomyelia. These conditions pose significant diagnostic and management challenges due to their varied presentations and complications.

Incidental Discovery of Klippel-Feil Syndrome: Beyond the Expected Clinical Triad.

Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, limiting neck mobility, and often presenting with clinical manifestations such as neck pain, stiffness, and neurological deficits. While the classical presentation of KFS includes a "clinical triad" comprising a shortened neck, a low posterior hairline, and limited cervical motion, not all patients exhibit all three features. This case report presents an 81-year-old male with the complete KFS triad and underscores the diagnostic challenges and management strategies associated with this condition. Despite the rarity of KFS, understanding it is crucial for clinicians due to its profound implications on patient management and quality of life. This case emphasizes the importance of clinical suspicion in Internal Medicine, showcasing how an isolated presentation may often be a manifestation of an underlying congenital condition.

Neglected Sprengel's deformity in an 80-year-old female cadaver: a case report.

BACKGROUND: Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel's deformity is rarely found in older patients. CASE PRESENTATION: We presented a unique case of a Japanese female cadaver with Sprengel's deformity at the age of 80 years. Anatomical dissection and radiological imaging revealed musculoskeletal anomalies associated with Sprengel's deformity, including Klippel-Feil syndrome, presence of an omovertebral bone, and absence of the trapezius muscle. In addition, bilateral cervical ribs were in contact with the brachial plexus. These anomalies may lead to numbness, pain, and limited range of motion of the neck and upper girdle with aging. CONCLUSIONS: Because most adult patients with Sprengel's deformity experience neck pain and limited movement of the shoulder, the presented case is a rare case of neglected Sprengel's deformity in an 80-year-old cadaver.

Bilateral Sprengel Deformities, Mirror Movements Synkinesis, and Arthrogryposis Multiplex Congenita: A Novel Combination.

Introduction: Bilateral Sprengel deformities, mirror movements synkinesis, and arthrogryposis are described in different combinations in various syndromes but never together. Case Report: We present a 12-year-old girl who presented with bilateral shoulder deformities and difficulty in coordination while writing. On examination, she was noted to have bilateral Sprengel deformities with flexion contractures of upper-limb joints and mirror movements of both upper and lower-limb joints. Conclusion: In the light of relevant literature, we may speculate that these three have a causal relation and even a genetic basis but further studies are needed to prove the same.

Klippel-Fiel syndrome with rare presentation of bilateral temporomandibular joint osteoarthritis - A case report.

BACKGROUND: Klippel-Fiel syndrome (KFS) is a rare congenital skeletal disorder characterized clinically by presence of a triad of short neck, limited neck mobility (due to fused cervical vertebrae) and low posterior hair line. It was first described by Maurice Klippel and Andre Feil in 1912. Various skeletal and non-skeletal anomalies may be seen in association with KFS. CASE PRESENTATION: This report aims to highlight orofacial manifestations of a 16-year-old male patient with KFS along with a rare presentation of bilateral osteoarthritic changes in the temporomandibular joint. The treatment planning and execution for such a case has also been described. CONCLUSION: Bilateral osteoarthritic changes of temporomandibular joint have been rarely reported in KFS. This report emphasizes that early diagnosis of various associated anomalies and timely intervention through an interdisciplinary approach is very essential in the management of patients with KFS.

Prenatal and Neonatal Ultrasound and Magnetic Resonance Imaging Diagnosis of Sprengel's Deformity with Unusual Associations.

INTRODUCTION: Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3-8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect. CASE PRESENTATION: We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed - although visible - on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. CONCLUSION: Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.

Utilization of intraoperative neuromonitoring during the Woodward procedure for treatment of Sprengel deformity.

BACKGROUND: Brachial plexus injury (BPI) leading to palsy of the upper extremities is the most serious complication of the Woodward procedure for treatment of Sprengel deformity. Intraoperative neuromonitoring (IONM) is widely used for detecting emerging spinal cord or peripheral nerve injury during spinal and shoulder surgery. However, to date, its utilization in pediatric patients with Sprengel deformity is limited. Furthermore, it remains unclear whether IONM can help prevent BPI during surgery. The purpose of the current study was to assess the feasibility and effectiveness of IONM for early identification and prevention of nerve injury during the Woodward procedure. METHODS: We retrospectively reviewed the records of patients who underwent the Woodward procedure for Sprengel deformity at our institution between January 2017 and January 2020. IONM, including somatosensory evoked potentials (SEP) and motor evoked potentials (MEPs), was performed in all patients. Detailed IONM data were collected and analyzed. Preoperative and postoperative cosmetic appearance (according to the Cavendish classification), shoulder joint abduction function, and radiologic evaluation of the scapula were reviewed. Surgical complications were recorded. RESULTS: Forty-six patients (19 girls, 27 boys) were included (mean age, 5.1 ± 2.1 years). Both SEP and MEP (amplitude of the abductor pollicis) were successfully performed (100%). MEP alerts occurred in 3 patients (6.5%). After scapula position adjustment, signals recovered in 2 patients and remained unchanged in 1 patient-this patient exhibited postoperative motor deficits that resolved completely by 4 months recovery. The SEP amplitudes decreased in all 3 patients but did not reach the warning criteria. Forty patients were classified as grade III and 6 as grade IV in the Cavendish classification, whereas 35 patients were classified as grade II and 11 as grade III in the Rigault scale. The preoperative Cavendish grade was III (III, IV) and the postoperative Cavendish grade was I (I, II) (χ2 = 88.098, P < .001). The preoperative Rigault grade was II (II, III) and the postoperative Rigault grade was I (I, II) (χ2 = 62.133, P < .001). The mean arc of shoulder joint abduction improved from 99° ± 8° to 167° ± 7° (t = -45.871, P < .001) after surgery. Except for temporary motor deficits detected in 1 patient, no other postoperative complications were observed through the time of final follow-up. CONCLUSION: IONM during the Woodward procedure for Sprengel deformity is feasible and effective in detecting intraoperative neurologic changes and may be effective in preventing BPI associated with surgery.

Outcomes of Woodward's Procedure for Sprengel's Shoulder Using Neurophysiological Monitoring of the Brachial Plexus Without Clavicular Osteotomy: A Retrospective Study.

Introduction For Sprengel deformity, a variety of operations are available, with Woodward's procedure being a favorable option with good outcomes. This study aims to assess the outcomes of Woodward's procedure with brachial plexus monitoring to prevent the possible complications of nerve injury and consequent deficits. Methods In our study, we included 18 patients with Sprengel deformity treated with Woodward's procedure using intraoperative neuromonitoring for the brachial plexus from 2013 to 2019 at our institute. For each patient, we collected information about age, gender, follow-up duration, affected shoulder side, and presence of an omovertebral bar. Also, preoperative and postoperative degrees of shoulder abduction, Cavendish grade of cosmetic appearance, Rigaults grade, and difference in scapular elevation along with postoperative complications were all measured to evaluate the outcomes. Results The mean duration of follow-up was 12 months. The average preoperative Cavendish grade was 3.1, which decreased to 1.3 on the final follow-up. The average preoperative Rigault grade was 2.5, which has decreased to an average of 1.8. The average increase in the degree of shoulder abduction postoperatively was 48.3°. The average preoperative difference in scapular height (mm) was 26.9, which decreased to an average of 12.2. Furthermore, the final outcome was not impacted by the absence or the existence of the omovertebral bar. Conclusion Woodward's procedure using intraoperative neuromonitoring without clavicle osteotomy for Sprengel's deformity successfully corrects the deformity and decreases the risk of iatrogenic brachial plexus injury.

A Novel Modification of Woodward Procedure for Correction of Sprengel Deformity by Application of Anchoring Sutures.

PURPOSE: To report the functional and cosmetic results of cases with Sprengel deformity (SD) who underwent a novel technical modification in Woodward procedure for severe SD comprising of lowering of the scapula followed by stabilization of scapula with application of anchoring sutures. MATERIALS AND METHODS: Twenty-three children were operated at a mean age of 6.6 ± 2.5 years (range 3.4-11 years) and followed up for a mean period of 5.51 ± 1.98 years. RESULTS: The mean Cavendish score of the patients before procedure of 3.2 ± 0.45 was reduced to 1.7 ± 0.56 (p < 0.001) after the surgery. All patients improved in global shoulder abduction. The mean preoperative abduction of 97° ± 15.2° increased to a mean of 149° ± 14.1° post-operatively (p < 0.001). Significant improvement was also observed in mean Rigault grades after surgical intervention using anchoring suture modification of Woodward procedure. The mean Rigault grade of 2.7 ± 0.47 prior to surgery was reduced to 1.3 ± 0.47 (p < 0.001) at final evaluation. Age of the patients negatively correlated with the functional outcome (r = - 0.48; p < 0.02). The presence of an omovertebral bar or associated congenital anomalies did not affect the functional outcome. CONCLUSION: The modification of Woodward procedure for correction of SD by application of anchoring sutures was a reliable method for correction of SD particularly at younger age. The procedure was associated with significant improvement in shoulder abduction, cosmetic appearance and radiological grades over 5 year follow-up.

Prenatal diagnosis of Sprengel's deformity in a patient with Klippel-Feil Syndrome.

We present a case of Klippel-Feil Syndrome, a congenital skeletal defect where multiple cervical vertebral bodies are fused. Klippel-Feil Syndrome has multiple associated anomalies, with a notable one being Sprengel's deformity. In this case, the patient was given a diagnosis of Klippel-Feil Syndrome prenatally after suspected cervical vertebrae fusion and Sprengel's deformity were seen on both fetal magnetic resonance imaging (MRI) and ultrasound. Prenatal diagnosis of Sprengel's deformity has been reported once in the literature. In this report, we present imaging findings of Sprengel's deformity seen in association with Klippel-Feil Syndrome using a combination of fetal ultrasound and MRI.

Trapezius sparing minimally aggressive surgical technique for sprengel deformity: A case report.

Sprengel deformity is a rare congenital anomaly of the pectoral girdle of unknown incidence. Surgical intervention is indicated in moderate to severe cases having functional and cosmetic impairment. Various surgical corrective procedures have evolved over the past decades, however the extensive magnitude of some of the surgical techniques have sometimes resulted in an unwarranted worse outcome due to associated complications like brachial plexus palsy, scapular winging, sternoclavicular joint prominence, improper scar healing and keloid formation which restrict such procedures to experienced hands at few centres. We report a case of Cavendish grade 3 Sprengel deformity in a five-year-old boy managed with a minimally aggressive modified technique of preserving the trapezius and restricting the surgery to excision of omovertebral bar and supraspinatous part of scapula by a transverse incision overlying the spine of scapula. In Sprengel deformity, the trapezius attached to the elevated scapula is underdeveloped and the technique of retraction instead of detachment of this muscle during surgery, can prevent scar adhesions and improve wound healing. In our patient, satisfactory cosmetic correction and good functional shoulder movements were achieved with minimal intervention.

Outcomes following endoscopic-assisted Woodward procedure for Sprengel deformity.

PURPOSE: An endoscopic-assisted approach for Sprengel deformity has been previously reported. Our objective was to assess outcomes of the endoscopic Woodward procedure in a series of patients. METHODS: Retrospective analysis was performed of children with a Sprengel deformity treated between November 2014 and February 2018. Recorded data were demographic, pre- and postoperative active shoulder elevation and deformity severity according to Cavendish. RESULTS: A total of 12 children (four girls and eight boys, ten right-sided/two left-sided) with a mean age of nine years two months (3 years 5 months to 16 years 1 month) and mean follow-up 19.8 months (10 to 48) were assessed. Nine children were classified as Cavendish Grade III and three as grade IV, respectively. Mean preoperative active shoulder forward elevation was 100.8° (70° to 120°), while postoperatively it increased to 149.2° (100° to 170°). Mean preoperative scapular high difference was 4.5 cm (2.8 to 5.2), while postoperatively it was 1.33 cm (0 to 2.8). CONCLUSION: The endoscopic assisted Woodward procedure is an effective technique. Further comparative studies will ascertain advantages in functional and cosmetic results compared to the standard Woodward procedure. LEVEL OF EVIDENCE: Therapeutic study, Level IV.

Sprengel's deformity: an analysis of surgically and nonsurgically treated patients.

BACKGROUND: Sprengel's deformity is a congenital anomaly of the scapula and can be associated with reduced shoulder mobility and esthetic concerns. Controversies remain regarding its natural history, radiographic findings, and optimal treatment strategy. METHODS: A total of 74 Sprengel's shoulders in 71 patients presenting to a pediatric referral hospital were retrospectively reviewed including 24 surgically treated shoulders. Median age at initial presentation was 3.8 years. Median age at the final follow-up was 9.6 years. RESULTS: Twenty shoulders were analyzed for range of motion across time. The median composite abduction range was initially 105° and at the last time-point 98°, with a median loss of 15° over 5 years (P = .007). A total of 26% of the nonsurgical shoulders reported pain at the latest follow-up, compared with 1 surgical patient (4%) (P = .028). Older age was independently associated with pain (P < .001); this effect was only seen in nonsurgical patients. Radiographically, the glenoid inclination angle (GIA) independently correlated with the abduction range (P = .001). Surgically treated shoulders underwent a modified Woodward procedure at a median 4.8 years of age. At a median follow-up of 41 months, the abduction range improved in the surgical group from 90° preoperatively to 110° postoperatively, with a median gain of 40° (P < .001). The median GIA changed from -2° to 4° with a median gain of 9° (P = .004). CONCLUSIONS: The natural history of untreated Sprengel's deformity may be one of gradual decline in the abduction range, with a proportion of patients developing pain in adolescence. The GIA correlates with the shoulder abduction range. Surgery with a modified Woodward procedure may alter the natural history of the condition by improving motion and reducing risk of pain later in life.

Sprengel Deformity with Omovertebral Bone Encroaching the Spinal Canal Causing Progressive Cervical Myelopathy: A Technical Case Report.

An adult with Sprengel deformity and Klippel-Feil syndrome associated with an omovertebral bone has rarely been reported in literature. The omovertebral bone is an abnormal cartilaginous connection between the scapula and the cervical spine. Limited cases have previously been reported in the literature describing surgical intervention when neurologic deficits such as cervical myelopathy or radiculopathy are present. In the present case, an omovertebral bone extended into the cervical lamina resulting in cervical myeloradiculopathy requiring resection of the bony anomaly and cervicothoracic fusion. The omovertebral bone as an etiology for radiculopathy or myelopathy is rarely seen in an adult population, and surgical decompression and fusion should be considered with this constellation of anomalies.

Functional improvement in patients with Sprengel's deformity following Modified Green's procedure and simplified clavicle osteotomy-a study of forty cases.

PURPOSE: Sprengel's deformity though rare is the most common congenital anomaly of the shoulder region. The aim of the study was to check the effectiveness of the modified Green's procedure with simplified clavicle osteotomy in providing significant functional and radiological improvement without neurovascular complications. METHODS: Sixty-eight children of Sprengel deformity were operated by the modified Green's release. Of which forty patients (15 male, 25 female) with more than two years follow-up were evaluated retrospectively. Simplified clavicle osteotomy was done in 34 patients. Severity was graded clinically by Cavendish grading (Grade II-6, III-34) and radiologically by Rigault grading (Grade II - 35, III - 5). The average age at surgery was 5.05 years with a mean follow-up of 62 (24-145) months. RESULTS: The average improvement in Cavendish grade was 2.6 grades, and Rigault grading was 1.07 grades. Shoulder abduction improved by a mean of 360. There was no neurovascular complication in children who had simplified clavicle osteotomy, and one patient without clavicle osteotomy developed transient brachial plexus palsy. Other complications were wound gape, pleural tear and scapular winging. CONCLUSION: The modified Green's procedure with simplified clavicle osteotomy allows for excellent correction of function and cosmesis. We describe a simpler technique of clavicle osteotomy that is quick, safe and equally effective in preventing neurovascular complications. We also describe a surrogate clinical test to avoid potential neurological injury in the absence of neuromonitoring. To the best of our knowledge, this is the second-largest operative series of Sprengel's deformity.

Passive range of glenohumeral motion in children with a Sprengel's deformity.

BACKGROUND: In Sprengel's deformity, loss of shoulder motion has been attributed exclusively to scapulothoracic stiffness. The purposes of this study were to evaluate passive glenohumeral (GH) joint motion in these children. METHODS: A prospective evaluation of 23 children was performed. Obtained data were demographics, Cavendish grade, bilateral active global shoulder elevation, and multidirectional passive GH range of motion, including: (a) GH internal rotation in abduction and GH cross-body adduction to assess for posterior GH contracture; (b) spinohumeral abduction angle (SHABD) to assess for inferior GH contracture; (c) spinohumeral adduction angle to assess for superior GH contracture; and (d) passive external rotation in shoulder adduction and abduction to assess for anterior GH contracture. Paired t tests and both Pearson's and Spearman's correlation analyses were performed. RESULTS: The mean patient age was 8.1 years (range, 1.4-16.7 years), with 13.4% of deformities Cavendish grade 1, 52.2% grade 2, 13.4% grade 3, and 21.7% grade 4. The involved shoulder showed a statistically significant decrease in mean active global shoulder elevation (117.4° vs. 176.1°), SHABD (14.6° vs. 41.5°), cross-body adduction (43° vs. 71.3°), and internal rotation in abduction (17.8° vs. 49.4°), all at P < .001. Strong inverse correlations were noted between Cavendish grade and both global shoulder elevation (r, -0.784) and SHABD (r, -0.669). Cavendish grade IV patients showed a mean decrease of 45° (range, 40°-60°) of SHABD. CONCLUSION: Shoulder elevation is also impaired by GH joint contractures.

Omovertebral bone causing traumatic compression of the cervical spinal cord and acute neurological deficits in a patient with Sprengel's deformity and Klippel-Feil syndrome: case report.

The presence of an omovertebral bone with Sprengel's deformity and Klippel-Feil syndrome is a complex congenital anomaly that is not well understood. It most commonly manifests as cosmetic deformity, limited range of motion, and functional disability, although there are reports of the insidious development of cervical myelopathy. In this paper, the authors present the case of a 49-year-old man with acute neurological deficits after a low-energy mechanism of traumatic spinal cord compression, resulting from an impinging omovertebral bone through a traumatic laminar defect. The patient underwent resection of the omovertebral bone, laminectomy decompression of the spinal canal, and anterior stabilization. This case highlights a rarely discussed complication of undiagnosed Sprengel's deformity and its associated conditions following even low-energy traumatic mechanisms.

Results of surgical treatment for Sprengle's deformity with vertical corrective scapular osteotomy.

INTRODUCTION: Sprengle deformity is the most common congential anomaly of shoulder complex that is the result of scapular placement in cephalad abnormal position. The purpose of this study is the evaluation of clinical and radiological results of vertical corrective scapular osteotomy and comparision of these results with previous studies. METHODS: We retrospectively reviewed the results of the vertical corrective scapular osteotomy (VSO) with or without clavicular osteotomy and wake-up test in 31 consecutive patients at an average duration of follow up of 30 month (6 month-15 years). 22 patients were girls and 9 were boys. The average age of the patients was 7.3 years (3-13) at the time of surgery. We evaluated the clinical and radiological results of this method in last fallow-up. No funding was used for this study and there are no conflicts of interest. RESULTS: 31 surgical procedures were performed. All osteotomies were healed. No neurovascular complication. Postoperative the mean shoulder flexion and abduction were improved 30 and 36° respectively (p < 0.001). The mean improvement of superior scapular angle (S.S.A) and inferior scapular angle (I.S.A) were 16 and 21° respectively (p < 0.001). CONCLUSION: It is intuitive that more cosmetic scapular lowering with little chance of neurovascular problems can be achieved after VSO. In addition, scapular rotation can be corrected using this technique, which should be considered as one of the advantages of this technique.We believe that a properly applied VSO procedure in severe deformities is safe with predictable outcomes in the treatment of a complex deformity that provides favorable functional and cosmetic outcomes in the longer term.

Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism.

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. An anticipated difficult airway due to a short neck with restricted neck movements and extrinsic restrictive lung disease due to severe thoracic kyphoscoliosis increased his anesthesia risk. Due to his deviated nasal septum and contralateral inferior turbinate hypertrophy, we chose awake fiber optic orotracheal intubation followed by submental intubation. Considering the cervical vertebral fusion, he was carefully positioned during surgery to avoid potential spinal injury. He recovered well and his postoperative course was uneventful.