Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome

To investigate the characteristics and incidence of the thoracic deformities in patients with microtia. In Plastic Surgery Hospital, we conducted a retrospective study of the clinical and radiographical data of 300 patients with microtia from March 2013 to October 2014. Pearson χ2 test was used to analyze the relationship among deformities of ribs and spine, as well as microtia. A total of 78 (26.0%) patients were documented with rib deformities, 26 patients (8.7%) had spinal deformities, and 17 patients (5.7% )had both. The incidence of rib deformities in microtia I, II, and III was 7.1% (2/28), 26.7% (62/232) and 35.0% (14/40) respectively. The incidence of spinal deformities in microtia I, II, and III was 3.6% (1/28), 6.5% (15/232) and 25.0% (10/40 respectively. The patients with microtia III were found to have a higher incidence of ribs and spinal deformities than those with microtia II, patients with microtia II were found to have a higher incidence of ribs and spinal deformities than those with microtia I (P < 0.05). The incidence of ribs and spinal deformities is high in patients with microtia. The poorer one auricle developed, the higher the incidence of thoracic deformities.

Retrospective review. To investigate the clinical manifestations and radiological characteristics of Klippel-Feil syndrome (KFS) in congenital scoliosis (CS). To identify the incidence of spinal or extraspinal abnormities in KFS. KFS is an uncommon condition, characterized as improper segmentation of one or more cervical spine segments. "Scoliosis" is potentially the most common manifestation associated with KFS. However, the clinical manifestations and radiological characteristics of KFS in patients with CS are less reported. A total of 516 patients with CS from January 2009 to March 2013 were identified from a single institution. The demographic distribution and clinical and radiographical data were collected. Cervical regions were also designated as high (O-C2), mid (C2-C4), and low (C4-T1). The incidence of intra- and extraspinal abnormalities associated with KFS was investigated. In total, 28 patients (5.42%) had been identified with KFS, which included 8 males and 20 females. The mean coronal cervical alignment was 20.6° and sagittal alignment was 29.9°. KFS type I was found in 14 patients (50.0%), type II in 6 (21.4%), and type III in 8 (28.6%). Congenitally fused cervical segment is more common in the mid and lower cervical spine region (85.7%, 24/28). In the 28 patients with KFS, 11 have intraspinal anomalies (32.1%) and 6 have extraskeletal anomalies (21.4%). Thirteen patients (46.4%) exhibited rib anomalies. The incidence of rib anomalies showed no significant difference in CS patients with KFS and without KFS (P>0.05). A half of the patients with KFS have hemivertebrae; however, the incidence of hemivertebrae showed no significant difference in CS patients with KFS and without KFS (P>0.05). The incidence of KFS was 5.42% in patients with CS. Congenitally fused cervical patterns are more common in the mid and lower cervical spine region. The incidence of rib anomalies, intraspinal abnormities, and hemivertebra was not increased in CS patients with KFS. 4.

Background: Congenital anomalies are common in the vertebral column. In condition of fusion of the cervical vertebrae, two vertebrae appear not only structurally as one but also function as one. This fusion may be congenital or acquired. Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. Aims and Objectives: The present study is to study the fused C2 with C3 vertebrae and its clinical importance. Materials and Methods: The present study conducted on 75 dry adult human axis (C2) vertebrae of either sex in the Department of Anatomy, Vijayanagar Institute of Medical Sciences, Ballari, Karnataka, India. The fused C2 with C3 was found and carefully studied. Results: In the present study the incidence of fused C2 with C3 is 1.33% (1out of 75). Conclusion: Fusion of C2 C3 clinically important to rule out various syndromes; Klippel-feil syndrome, Crouzons syndrome, which causes abnormalities of the neck movements with shortening of spine in the cervical region. Congenital Fused Congenital Vertebrae is one of the primary malformation of chorda dorsalis. Awareness of anomalies of cervical vertebrae is of great importance to anatomists, orthopaedicians, neurologists, neurosurgeons and even orthodontists. Also anaesthetists must be aware of these anomalies while doing endotracheal intubation, where extension of the neck is done.

This study evaluated the long-term results of Klippel-Feil syndrome in patients with congenital scoliosis. To determine the incidence of cervical and cervical-related symptoms of patients who have Klippel-Feil syndrome associated with congenital scoliosis. Many authors have described the association of Klippel-Feil syndrome and congenital scoliosis. In this population of patients, cervical lesions often are discovered incidentally. The significance of these lesions is unknown. Thirty-two patients with congenital scoliosis and Klippel-Feil syndrome were observed for more than 10 years. They were questioned specifically about cervical and cervical-related symptoms. All patients had sequential cervical radiographs and physical examinations. Despite rather dramatic radiographic appearances, only seven (22%) of the 32 patients had cervical or cervical-related symptoms, with two patients requiring surgery for their cervical lesions. The extent of the deformities and the average number of cervical vertebrae fused and cervical fusion-patterns were statistically similar between the symptomatic and asymptomatic groups. Patients fused to the cervicothoracic junction for management of their deformities had a significantly increased incidence of cervical symptoms. Also, patients with congenital stenosis had a significantly greater incidence of upper extremity pain. Only a small number of patients with Klippel-Feil syndrome and congenital scoliosis developed cervical symptoms. No fusion pattern that placed the patient at greater risk for developing symptoms could be identified. Factors that did lead to a greater incidence of cervical symptoms were fusion to the cervicothoracic junction and congenital cervical stenosis.

Objective To explore the functional and cosmetic outcomes of Sprengel deformity after Woodward procedure and partial scapulectomy and employ three-dimensional-computed tomography (3D-CT) technique for evaluating the morphometric characteristics of Sprengel deformity. Methods From September 2011 to September 2016, 29 patients (15 boys and 14 girls) with Sprengel deformity underwent Woodward procedure (n=19), clavicle osteotomy (n=4) and partial scapulectomy (n=10). The average operative age was (3.69±1.34) years. A Philips 64-row machine was employed with Philips Intellispace Portal software for reconstructing bone tissue and shielding soft tissues. And an Ebm dicom viewer was employed for assessing the values of height-to-width ratio, superior displacement ratio, rotational difference and anterior curvature of supraspinous portion. The functional and cosmetic outcomes were evaluated on the basis of changes in shoulder abduction and the radiographic findings using Cavendish classification. Results During a postoperative follow-up period of (46.38±18.05) months, significant improvement of at least 1 Cavendish grade was documented in all cases except for one child. The postoperative shoulder abduction significantly improved [(94.14±9.83) to (154.46±16.97) degrees, P=0]. On preoperative 3D-CT, the mean height-to-width ratio of affected scapula was significantly smaller than that of contralateral counterpart. An inverse relationship existed between rotational difference and superior displacement ratio. One patient was associated with Klippel-Feil syndrome. There were spinous processes (n=4), partial spinal fusion (n=4), partial rib fusion (n=2), scoliosis (n=1), omovertebral bone (n=22) and anterior curvature of supraspinous portion (n=12). Conclusions 3D-CT is helpful in evaluating pathological anatomy of Sprengel deformity. Both Woodward procedure and partial scapulectomy offer satisfactory cosmetic and functional outcomes. Key words: Congenital abnormalities; High scapula; Operation

Background: Klippel-Feil Syndrome (KFS) is a rare diagnosed condition in human and animals. They are usually asymptomatic and considered a clinical finding after image exam due to another neurological sign. This syndrome can be classified in Type I, Type II or Type III. The immobile neck may cause a biomechanical change in the spine motion and predispose disc herniation. This case aims to report a case of a dog with diagnosed KFS with disc extrusion, its treatment and follow up. Case: A 8‐year‐old entire male Dachshund was referred for evaluation because of a history of chronic cervical kyphosis and low head carriage, and a 7-day history of acute onset of non-ambulatory spastic tetraparesis and neck pain without improvement after clinical treatment with non-steroidal anti-inflammatory and analgesic. Blood and white cell count were within the normal range, as vital parameters. Cranial nerves were considered normal and no brain disorder was observed during physical examination, only aggressive behavior after management related to pain. Hyperreflexia and hypertonia were observed in all 4 limbs, with cervical painful cervical flexion and turning. Plain radiographs of the cervical spine revealed fusion of the vertebral bodies of C2 and C3, and calcification of the intervertebral disc at C5-C6, with mild narrowing of the disc space. MRI revealed fusion between C2-C3 with an absence of the intervertebral disc, and changes in the signal intensity of the spinal cord were not identified at the malformation site. In the ventral aspect of the spinal canal dorsal to C5-C6 disc space, there was T2 hypointense material consistent with herniated intervertebral disc material, causing extra-dural spinal cord compression. The diagnosis was Klippel-Feil syndrome (Type I) at C2-C3 and disc extrusion at C5-C6. A ventral slot decompression surgery was performed between C5-C6, the intervertebral space was identified based on palpation of the transverse process of C6. On the day after the surgery the patient displayed a neurological improvement with ambulatory spastic tetraparesis, and on the 5th day the dog was able to get up and walk without ataxia and neck pain. At the final evaluation, 1.6 years after the surgery, the dog was neurologically normal. Discussion: Due to its common undiagnosed frequency in veterinary medicine, this case report presents a diagnosed Klippel-Feil syndrome (KFS) with disc extrusion in a dog. Corroborating with usual findings in this syndrome, this patient presented short neck and limited neck range of motion in flexion and extension. The low posterior hairline was mild. KFS may be find occurring with intervertebral disc disease in consequence of the change in the spine’s range of motion. Other abnormalities have been associated in human KFS, such as scoliosis, rib deformity, deafness and systemic disorders as renal and cardiovascular. The patient in this case report presented any systemic injury possible to relate with the KFS. The gold standard diagnostic method is magnetic resonance image (MRI), but a gross evaluation can be made in the simple x-ray. Surgical treatment is not necessary when KFS is asymptomatic. Disc extrusion is associated to possible stress on normal intervertebral disc due to decreased mobility in the fused cervical segment. Ventral slot was performed in the C5-C6 disc extrusion to spinal cord decompression, the location corroborates with usual site of intervertebral disc disease. During the follow up (&gt; 1 year), the patient maintained itself neurologically normal. This case report raises the importance to identify KFS in veterinary medicine, which may be being under-reported and its possibility to bias degenerative disease in the intervertebral disc. Keywords: vertebrae fusion, congenital deformities, canine, KFS, IDD, ventral slot.

Intraspinal anomalies are common in patients with congenital scoliosis and are a known risk factor for neurological complications. Smaller but normal-appearing spinal cords have not been described in association with congenital scoliosis, nor have they been considered to be an anomaly with a similar neurological risk. We previously reported on small spinal cords associated with Klippel-Feil syndrome. We hypothesized that patients with congenital thoracic scoliosis would similarly have smaller spinal cords as compared with normal controls, with a potentially increased risk for myelopathy. We reviewed thirty patients with congenital scoliosis (including fifteen patients with failure of vertebral formation and fifteen with failure of vertebral segmentation). All patients had adequate axial T2-weighted, digitally formatted magnetic resonance imaging scans that were suitable for cross-sectional measurement. Cross-sectional areas of the spinal cord and spinal canal at each of the twelve thoracic levels were calculated three times by a blinded observer, and the average values were compared with measurements from age-matched normal controls. We observed a significantly smaller mean cross-sectional area at all levels of the spinal cord in the study group as compared with the control group (p < 0.01). When the pathological segments were evaluated, both with and without the inclusion of the adjacent normal segments, the spinal cord was smaller for the study group (p < 0.01). Within the study group, small spinal cords were observed in patients with failed vertebral formation as well as in patients with failed vertebral segmentation, but without an identifiable difference between these two subgroups. The spinal canal was also smaller for the patients in the study group, but not in all cases. No patient showed a reduction of, or encroachment on, the space available for the spinal cord. Spinal cord size increased with age in both the study group and the control group but remained consistently smaller in the study group. Within the study group, the presence of intraspinal anomalies did not appear to influence the spinal cord size. The spinal cord is significantly smaller in patients with congenital thoracic scoliosis than in normal controls. Because small spinal cords have been reported to be associated with neurological sequelae, we advise that the diminished spinal cord size be considered an important component of intraspinal anomalies associated with congenital scoliosis.

Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.

Objective To explore ear reconstruction using autologous rib cartilage ear framework by multi-layer spliced sculpture in microtia patients.Methods From Feb 2010 to May 2011,29 microtia patients were subjected to ear reconstruction using autologous rib cartilage ear framwork by four-layer spliced sculpture.Results In one operation 29 patients achieved 2 cm transverse height of reconstructed ears which were basically coincidence with the normal side.Patents and their families were all satisfied with the results.Follow-up of 3-12 months showed that only 1 case reconstructed-ear height was significantly lower transverse process.Owing to sleeping position,the patient did not protect the reconstructed ear,leading to frequent reconstructed-ear pressure.Conclusions The method of multi-layer spliced sculpture autologous rib cartilage ear reconstruction has good clinical effect.It can make reconstructed ear reach nomal transverse height and avoid the third rib cartilage transplant operation to continue increasing the transvers height. Key words: Autogenous cartilage; Microtia; Ear reconstruction

Objective: To summarize the characteristics of multisystem deformities in patients with Klippel-Feil syndrome (KFS) combined with congenital scoliosis (CS). Methods: Within the framework of the "Deciphering Disorders Involving Scoliosis and Comorbidities (DISCO)" research collaboration, a retrospective analysis was conducted on patients diagnosed with KFS and CS at Peking Union Medical College Hospital between April 2005 and August 2022. Patient data, including imaging examinations and medical records, were collected to summarize the spinal and associated deformities. Results: A total of 82 KFS patients with concurrent CS were included, comprising 42 males and 40 females. The average age was (12.8±8.9) years. Among the KFS patients, there were 31 cases of Type Ⅰ, 12 cases of Type Ⅱ, and 39 cases of Type Ⅲ. The most common location for the major curve of scoliosis was the mid-thoracic segment (42 cases, 51.2%). Hemivertebrae deformities were most frequently observed in the upper thoracic segment (31 cases, 60.8%). There were no statistically significant differences in age, gender, major curve Cobb angle, or region of hemivertebrae occurrence among the different types of KFS (all P>0.05). Apart from spinal vertebral deformities, intraspinal deformities had the highest comorbidity rate (33 cases, 40.2%). The subjects were divided into two groups based on the presence or absence of intraspinal deformity (absence as group G0, presence as group G1), there was a statistically significant difference in the main Cobb angle [M(Q1, Q3)] between the two groups, which was 45.0° (27.5°, 62.0°) and 60.0° (37.5°, 83.5°), respectively (P=0.044). Additionally, a portion of the patients had concurrent cardiovascular system abnormalities (13 cases, 15.9%), craniofacial-ocular-auricular abnormalities (8 cases, 9.8%), genitourinary system abnormalities (7 cases, 8.5%), and gastrointestinal abnormalities (2 cases, 2.4%). Conclusions: Patients with KFS combined with CS commonly present with a major curve of spinal deformity in the mid-thoracic segment and often have comorbidities involving multiple systems. When combined with intraspinal anomalies, the major curve exhibits a greater degree of curvature.

Objective To investigate the clinical efficacy of asymmetric osteotomy via posterior adjacent vertebrae in the treatment of traumatic thoracolumbar kyphotic scoliotic deformity. Methods A retrospective case series study was conducted on the clinical data of 16 patients with traumatic thoracolumbar kyphotic scoliotic deformity admitted to our department from January 2012 to January 2017. There were 10 males and six females, aged (42.5±7.6) years (range, 20-62 years). According to the location of injured vertebrae, there were two patients with T11, five with T12, six with L1, and three with L2, all of which had scoliosis deformity and obvious low back pain. All patients underwent asymmetric osteotomy via posterior adjacent vertebrae. The operation time and intraoperative bleeding were recorded. The imaging parameters such as kyphosis Cobb angle, scoliosis Cobb angle, distance between C7 plumbline and central sacral vertebral line (C7-CSVL), and distance between C7 plumbline and sagittal vertical axis (SVA) were measured before and after operation. At the same time, the visual analogue scale (VAS), Oswestry dysfunction index (ODI), and SRS-22 scale were used to evaluate the clinical efficacy. The AISA score was used to evaluate the neurological function recovery before and after operation. Results All patients were followed up for (26.3±16.8) months (range, 15-65 months). The operation time was (6.0±1.4)hours (range, 4.5-9.0 hours), and the intraoperative bleeding was (900.5±360.8)ml (range, 800-1600 ml). The kyphosis Cobb angle was improved from (70.3±9.8)° before operation to (12.2±2.9)° after operation (P<0.01). The scoliosis Cobb angle was improved from (47.6±11.6)° before operation to (4.0±0.9)°after operation (P<0.01). The C7-CSVL decreased from preoperative (3.1±0.8)cm to postoperative (1.2±0.4)cm (P<0.01), and the SVA decreased from preoperative (5.0±0.9)cm to postoperative (2.9±0.5)cm (P<0.01). No severe complications such as spinal cord and nerve injury occurred. The VAS decreased from preoperative (6.8±1.0) to (1.9±0.9) points at the last follow up. The ODI decreased from (54.6±4.2)% before operation to (8.1±2.5)% at the last follow up. The SRS-22 score was increased from (64.6±7.5) points before operation to (87.4±3.2)points at the last follow-up. In terms of the ASIA classification, two patients were improved from grade C to grade D after operation, and six patients were improved from grade D to grade E. Conclusion Asymmetric osteotomy via posterior adjacent vertebrae is safe and effective in the treatment of traumatic thoracolumbar scoliosis, with high correction rate of scoliosis and kyphosis at the same time. Key words: Thoracic vertebrae; Lumbar vertebrae; Spinal fractures; Old fracture

Objective To discuss strategies of treating lower cervical injuries combined with cervical congenital abnormalities. Methods Eleven cases of lower cervical injuries combined with cervical congenital abnormalities were treated from 1998 to 2005. The injuries included 1 case of C3/4 disc herniation, 7 cases of whiplash injury, 1 case of C5 vertebral body fracture, and 2 cases of C4/5 and C5/6 dislocation.Cervical abnormalities included Klippel-Feil syndrome (2), basilar impression (2), platybasia (5), occipitalization of atlas (9), and Chiari deformity (1) . In 2 cases of Klippel-Feil syndrome, one stage anterior discectomy with iliac bone fusion and self locking plate combined with posterior lateral mass fixation was performed. One whiplash injury with Chiari deformity received a posterior laminectomy and occipital foramen decompression and craniocervical fusion. Other cases received anterior or posterior decompression and fusion respectively depending on their injury type. Results The follow-up ranged from 4 months to 6 years (mean, 22 months) . On average, the Frankel grade improved 1 to 2 levels 3 months postoperatively. Bonefusion was achieved in 3 months on average. No hardware-related complications were found. No instability- or deformity-related symptoms were observed during the follow-up. Conclusions In treatment of lower cervical injuries combined with cervical eongenital abnormalities, if there is no evidence of upper cervical injury, the lower cervical injury can be treated independently. Different kinds of congenital abnormalities must be taken into consideration. It is not necessary to fuse upper cervical or other segments to prevent deformity-induced instability. Key words: Cervical spine; Abnormality; Injury; Surgery

Objective To analyze the perioperative complications of posterior transpedicular osteotomy (wedge osteotomy and total vertebral osteotomy) for patients with spinal deformity.Methods From January 2007 to December 2011,73 patients with spinal deformity underwent posterior transpedicular spinal osteotomy (wedge osteotomy and total vertebral osteotomy).Among them,30 patients,including 8 males and 22females,aged from 8 to 68 years (average,40.7 years),presented with at least one perioperative complication.There were 10 cases of scoliosis,9 cases of kyphoscoliosis and 11 cases of kyphosis.Twenty two patients underwent total vertebral osteotomy,and 8 patients underwent wedge osteotomy.A retrospective analysis on perioperative complications of 30 patients was performed.Results Except 1 patient dying of hemorrhagic shock after operation,29 patients were followed up for 6 to 61 months (average,17.2 months).The total perioperative complication rate was 41.1％.Neurological complications occurred in 16 patients (21.9％),bleeding complications in 2 patients (2.7％),dural injury in 6 patients (8.2％),postoperative cerebrospinal fluid leakage in 4 patients (5.5％),wound infection in 4 patients (5.5％) and pleural effusion in 4 patients (5.5％).Conclusion Posterior transpedicular osteotomy is an effective surgical technique for spinal deformity.However,perioperative complications are common,including nerve injury,bleeding,dural injury,wound infection and so on.Among them,nerve injury and bleeding are most common. Key words: Osteotomy; Spinal curvatures; Postoperative complications; Intraoperative complications

Basically Chiari type III malformation is a combination of encephalocele with of brain stem and cerebellar abnormality. Although Klippel-Feil syndrome may be associated with other congenital anomalies, this syndrome is mainly associated with varying degrees of cervical vertebral fusion anomalies. In this study, we reported the association of Chiari type III malformation and Klippel-Feil syndrome with the mirror movement by imaging studies. The main involvement in Chiari type III malformation and Klippel-Feil syndrome is in the craniocervical junction. In such a small area, the emergence of these complex pathologies in our case was remarkable. Our patient had reconstruction surgery of the posterior fossa and his encephalocele was excised successfully. Hydrocephaly and/or deterioration in the functions of other posterior fossa structures have not been seen in the patient's follow-up.

BackgroundIt has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit “clinical triad” findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients.MethodsWe conducted a retrospective clinical study based on prospectively collected radiographic data. Thirty-one KFS patients at a single institution were assessed. Radiographs were used to evaluate the location and extent of congenitally-fused segments (spanning the occiput (O) to the first thoracic vertebra (T1)), as well as examining coronal and sagittal cervical alignments based on the Samartzis et al. KFS classification. Clinical records were evaluated to account for the initial clinical assessment of CTFs. Patients were further stratified into two groups: Group 1 included patients noted to have any CTFs, while Group 2 included patients who had no such findings.ResultsThere were 12 males and 19 females (mean age at initial consultation: 9.7 years). No evidence of any of the CTFs was shown in 35.5 % of patients, whereas 38.7, 16.2 and 9.7 % were determined to have one, two or all three criteria, respectively. Limited cervical ROM was the most common finding (64.5 % of patients). In Group 1, 25 % had a short neck, 30 % a low posterior hairline, and 100 % exhibited limited cervical ROM. Group 1 had a mean of 3.9 fused cervical segments, whereas Group 2 had a mean of 2.5 fused cervical segments (p = 0.028). Age, sex-type, occipitalization and alignment parameters did not significantly differ to Group-type (p > 0.05). In Group 1, based on the Samartzis et al. Types I, II, and III, 16.7, 73.3, and 80.0 % of the patients, respectively, had at least one CTF.ConclusionsComplete CTFs were not highly associated during the clinical assessment of young KFS patients. However, KFS patients with extensive, congenitally-fused segments (i.e. Samartzis et al. Type III) were significantly more likely to exhibit one of the components of the CTF, which was predominantly a limited cervical ROM. Clinicians managing young pediatric patients should not rely on the full spectrum of CTFs and should maintain a high-index of suspicion for KFS, in particular in individuals that exhibit associated spinal findings, such as congenital scoliosis.