Klippel-Feil综合征研究进展

综合征是一组以颈椎形成及分节障碍为特征的先天性畸形，又称短颈畸形。除了颈椎畸形外常合并其他系统器官的异常。对该综合征的诊断及预后判断有一定的困难，故应对患者进行全面评估，以选择正确的治疗方法。另外，对于Klippel—Feil综合征是独立存在的疾病还是一组先天性脊柱畸形中的一种，至今尚存争议。其确切遗传学病因至今不明，     

先天性脊柱侧弯术前MRI检查的应用价值

[目的]探讨MRI在先天性脊柱侧弯术前检查的应用价值。[方法]分析49例先天性脊柱侧弯患者术前MRI影像特征。[结果]其中椎体发育不良25例，椎管发育不良9例，椎板及棘突发育不良11例，脊柱裂5例，椎管内骨嵴4例，脊髓纵裂7例，Chiari氏畸形伴脊髓空洞3例，脊髓栓系综合征7例，椎管内肿瘤3例，脊膜膨出4例。背部皮毛窦1例，[结论]MRI技术的应用，大大提高了对先天性脊柱侧弯诊断的直观性和准确性，对手术治疗有极大的指导作用。     

MRI对血透病人的腕管综合征的诊断价值

目的:了解血液透析相关性淀粉样变(DRA)与腕管综合征的关系,评价MRI对DRA的诊断价值.方法:用高场强磁共振仪检查血透病人腕管综合征4例,4例正常人作对照.结果:4例有腕管综合征的病人腕关节骨质内见T1WI、T2WI低信号,stir序列高信号灶.结论:有腕管综合征的血透病人不仅可见腕管内病灶,还可见腕骨内不同程度的骨破坏.MRI对血透病人的腕管综合征有较高的诊断价值.     

Klippel-Feil综合征合并胸椎管狭窄症1例

<正>Klippel-Feil综合征是一组以颈椎形成及分节障碍为特征的先天性畸形,又称短颈畸形,由Klippel和Feil于1912年首次报告。Klippel-Feil综合征常合并有多种畸形,与先天发育有关,临床中较少见。胸椎管狭窄合并Klippel-Feil综合征的病例尚未见报道,本科室收治1例,现报告如下。1临床资料1.1病例报告患者,女,47岁,农民。主因"四肢麻木、无力     

脊柱骨转移瘤MRI诊断价值

作者报告５５例脊椎转移瘤ＭＲＩ表现，并与Ｘ线平片、平扫及增强ＣＴ、椎管造影、椎管造影ＣＴ（ＣＴＭ）等方法相比较，在显示肿瘤的解剖关系，包括骨破坏、椎管内侵犯、椎旁软组织延伸、病理压缩性骨折等方面，ＭＲＩ明显优于Ｘ线平片，平扫及增强ＣＴ，至少等于脊髓造影和ＣＴＭ，但是ＭＲＩ诊断脊椎转移瘤，大多数病例不需要椎管内注射造影剂。ＭＲＩ作为一种新的可供选择的技术，对脊椎转移瘤的诊断有重要价值。在大多数病例中可以替代脊髓造影和ＣＴＭ     

MRI在脊柱外伤中的诊断价值

目的探讨MRI对脊柱外伤的诊断价值。方法回顾性分析急性脊柱外伤45例患者24h内的MRI表现。结果椎骨骨折32例,脊椎损伤14例;脊髓水肿15例,脊髓完全性断裂3例,不完全性断裂2例;椎旁软组织及韧带损伤27例,椎间盘损伤17例。MRI对脊柱外伤临床诊断明确。结论 MRI对脊柱外伤的诊断和预后的评估具有重要的价值,更是临床脊髓损伤的重要检查方法。     

MRI对于骨质疏松性椎体压缩性骨折的诊断价值

为探讨ＭＲＩ对骨质疏松性新鲜与陈旧椎体骨折的鉴别诊断意义,对１７例老年人骨质疏松性椎体压缩性骨折于初诊及伤后３、６、１２个月行胸腰椎ＭＲＩ检查,记录其信号改变。并对其腰背痛程度进行评价。结果显示１７例骨折椎体急性期均表现为Ｔ１加权像低信号、Ｔ２架以像高信号,伤后逐渐恢复正常。伤 时间ＭＲＩ检查结果相春腰背痛症民逐渐减轻,伤后不同时间相差十分显著。认为ＭＲＩ可鉴别骨质疏松性新鲜与陈旧骨折,当骨质疏松     

Klippel-Feil综合征二例

例1 女，21岁，出生后即发现右侧肌性斜颈，随生长发育逐渐出现双侧颅面部不对称，颈部向左侧偏斜。体检：患者双侧颅面部明显不对称，右侧眉弓、眼裂、颧突、颧弓、耳郭、鼻翼及口角的位置均高于左侧，呈现以中线为起点的自内下向外上的偏斜。双眼裂等大，耳郭无畸形，听力正常。     

MRI诊断多脾综合征一例

患者,女,36岁,因胸闷、胸痛半年,加重10 d,于2008年8月30日就诊。查体：颈静脉怒张,肝-颈静脉回流征阳性,下肢轻度水肿。X光片显示右位心,心脏体积增大及两侧胸腔积液。胸腹部MRI示心脏体积增大,大部分位于右侧胸腔内,心尖位于右胸,主动脉弓及降主动脉在右侧,右心房及下腔静脉在左侧。左上腹部发现5个大小不等的结节,最大直径在1.0～4．0cm，平扫信号与脾脏一致（图1）。     

Klippel-Feil综合征一例

1病例介绍 患者女性,16岁,主因＂颈部蹼状短而宽16年＂入院。患者出生后即发现颈部较短,随年龄增大,颈部呈蹼状短而宽加重,颈部前后左右运动及左右两侧旋转运动受限加重。自诉幼儿时起不知何种原因听力障碍,言语功能差,7月前在外院行人工电子耳蜗植入术,术后听力有较大改善,     

Diagnosis and management of congenital rectourethral fistula in a child with long tubular duplication of the colon and Klippel-Feil syndrome

We describe a unique association of congenital rectourethral fistula with long tubular duplication of the colon in a boy with Klippel-Feil syndrome and Sprengel deformity. He presented with a rectourethral fistula after surgical repair of a tubular duplication of the terminal ileum, colon, and proximal rectum. Preoperative identification of the fistula was challenging and was only achieved after cystoscopy with injection of methylene blue under pressure through Foley catheters placed into the anus and distal stoma of a colostomy. Surgical repair was performed through the posterior sagittal approach. The patient is doing well after 4 years of follow-up.     

首届大网膜移植中枢神经系统应用国际专题研讨会纪要

首届大网膜移植中枢神经系统应用国际专题研讨会纪要首届大网膜移植中枢神经系统应用国际专题研讨会于１９９５年５月７日～１１日在江苏徐州召开。作为单一的专题研讨会，报名和投搞的有２０个国家和地区，与会的有来自四大洲七个国家的１３６名代表（包括国内２８个省市...     

Klippel-Feil anomaly combined with fetal alcohol syndrome

Summary Alcohol is the most frequent and most important teratogenic noxa for the embryo and fetus. It may lead to deformation of all cells and organs. A case of Klippel-Feil anomaly associated with fetal alcohol syndrome is described. The diagnosis of Klippel-Feil anomaly, even a late diagnosis made on the basis of rare deformities, is very important as the affected patients are at a high risk of alcoholism. The combination of Klippel-Feil anomaly with numerous other syndromes and deformities suggests a basic general disorder of skeletal maturation. Diverse cases of Klippel-Feil anomaly possibly originate., in reality, in an unrecognzied fetal alcohol syndrome.     

Anesthetic management of a parturient with type III Klippel-Feil syndrome

Klippel-Feil syndrome is believed to occur from failure of normal segmentation of cervical somites during gestation. We present the case of a 38-year-old primiparous woman with type III Klippel-Feil syndrome for elective cesarean delivery. Our patient had a short webbed neck, short stature, limited neck flexion and extension, and thoraco-lumbar abnormalities. A multidisciplinary approach, involving obstetrics, medical subspecialties, anesthesiology, otolaryngology, and radiology, were utilized to evaluate and manage this patient. Pulmonary function testing revealed a restrictive defect, but transthoracic echocardiography was normal without pulmonary hypertension. We planned a combined spinal-epidural technique; however, only the epidural technique was obtained. Cesarean delivery was commenced with favorable maternal and fetal outcomes. Post-operative pain management was provided with intravenous morphine patient-controlled analgesia.     

Cervical arthroplasty in a patient with Klippel-Feil syndrome

Summary This is the first published report of a patient with Klippel-Feil syndrome treated with cervical arthroplasty. A 36-year-old man presented with posterior neck pain and myelopathic symptoms. A radiograph demonstrated congenital fusion of the vertebral bodies at C2–3, C4–5 and C5–6. On MRI, the spinal cord was compressed by a protruding cervical disc and bony spurs at C6–7. After anterior discectomy and decompression of the spinal cord at the C6–7 level, the disc was replaced with the Bryan cervical disc system (Medtronic Sofamor Danek, Memphis, TN, USA) to restore normal motion. The absence of adjacent segment degeneration and the preservation of cervical motion were noted 2 years after surgery. Arthroplasty may be performed in selected patients with Klippel-Feil syndrome in order to restore motion and to prevent degeneration of the adjacent segment by reducing hypermobility.     

Fibreoptic intubation in Klippel-Feil syndrome

A patient with Klippel-Feil syndrome who underwent abdominal surgery is presented and the anomaly reviewed. The anatomical abnormality and potentially unstable neck provide a potentially difficult tracheal intubation which was undertaken using an awake fibreoptic technique. The role of the fiberscope and the advantage of pre-operative assessment of the difficult airway are discussed.     

磁共振成像在睾丸肿块中的诊断价值

目的:探讨睾丸肿块MRI的表现及诊断价值。方法:回顾性分析23例病理证实睾丸肿块,所有病例均行MRI平扫及增强扫描,观察肿块的形态特征、信号、强化程度及周围情况。结果:23例肿块中:精原细胞瘤7例,混合性生殖细胞瘤3例,畸胎瘤3例,内胚窦瘤2例,表皮样囊肿1例,Leydig细胞瘤1例,淋巴瘤1例,非特异性炎性肿块3例,结核2例。MRI对睾丸肿块定位准确,大多数肿块具有一定特征性。结论:根据MRI表现,结合临床病史,多数睾丸肿块可做出正确诊断。