[The multisystem deformities features of Klippel-Feil syndrome patients combined with congenital scoliosis].

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.

Klippel-Feil syndrome cases from Slovakia.

OBJECTIVE: This study analyzes two probable cases of Klippel-Feil syndrome (KFS) from the region of modern Slovakia and provides an overview of possible cases reported in 'grey' literature. MATERIALS: Two adult skeletons with probable KFS from Vráble-Velké Lehemby and Radola-Koscelisko. METHODS: Macroscopic analysis was performed using standard osteological methods. RESULTS: The two analyzed skeletons represent probable cases of KFS; one from the Neolithic, and one from the Middle Ages. Additional cases of potential KFS have been indicated within the 'grey' literature. CONCLUSIONS: The study shows that KFS was present in prehistoric eastern Central Europe. The few cases of ancient rare diseases may be a result of past and present bioarcheological research, and many cases are hidden within 'grey' literature. A re-examination of older datasets is vital. SIGNIFICANCE: The described cases from modern Slovakia contributes to a limited list of archaeological cases, thus widening our knowledge about the occurrence of this rare condition throughout Europe in the past. LIMITATIONS: The state of past and present osteo-archaeological research in eastern Central Europe, poor preservation of some remains, and lack of pathognomonic features associated with KFS. SUGGESTIONS FOR FURTHER RESEARCH: Systematic review of older skeletal assemblages and 'grey' literature.

Sprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients.

STUDY DESIGN: A retrospective, case series. OBJECTIVE: The aim of this study is to evaluate the concomitant anomalies in patients with Sprengel deformity (SD). SUMMARY OF BACKGROUND DATA: SD is the most common congenital anomaly of the shoulder. One or more associated anomalies may coexist in SD patients, similar to congenital scoliosis (CS); however, these anomalies and their relationship have not been studied in detail previously. METHODS: SD patients who have applied to our institution between 2005 and 2019 were retrospectively reviewed. The patients were evaluated clinically and radiologically. The patients were divided in two groups as SD patients with CS and without CS, to analyze if these anomalies are present due to CS or SD. Physical examination findings, MRI, CT, and USG reports were analysed for accompanying pathologies. Patients with missing data were excluded. Student-t and Fisher's exact tests were used to compare the groups. Significance value was set as p = 0.05. RESULTS: Ninety patients met inclusion criteria. The most common spinal anomaly was omovertebra, followed by spina bifida and Klippel-Feil. Tethered cord and diastematomiyelia were associated with CS (P = 0.0026 and P = 0.0057, respectively). The most common extra-skeletal anomaly was rib anomalies, followed by urinary and cardiac system anomalies. Rib anomalies were associated with CS (P = 0.00001). CONCLUSION: Concomitant anomalies may accompany SD. The prognosis of SD may be affected by these anomalies. Therefore, patients should be evaluated for possible coexistent congenital anomalies. LEVEL OF EVIDENCE: 4.

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

STUDY DESIGN: Retrospective study. OBJECTIVE: To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention. SUMMARY OF BACKGROUND DATA: KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Moreover, it remains unclear how the abnormalities seen in KFS correlate to neurological outcomes and the need for surgical intervention. METHODS: Principal component (PC) analysis was performed on 132 KFS patients treated at a large pediatric hospital between 1981 and 2018. Thirty-five variables pertaining to patient/disease-related factors were examined. Significant PCs were included as independent variables in multivariable logistic regression models designed to test associations with three primary outcomes: cervical spine surgery, thoracolumbar/sacral spine surgery, and cranial surgery. RESULTS: Fourteen significant PCs accounting for 70% of the variance were identified. Five components, representing four distinct phenotypes, were significantly associated with surgical intervention. The first group consisted of predominantly subaxial cervical spine fusions, thoracic spine abnormalities and was associated with thoracolumbar/sacral spine surgery. The second group was largely represented by axial cervical spine anomalies and had high association with cervical subluxation and cervical spine surgery. A third group, heavily represented by Chiari malformation, was associated with cranial surgery. Lastly, a fourth group was defined by thoracic vertebral anomalies and associations with sacral agenesis and scoliosis. This phenotype was associated with thoracolumbar/sacral spine surgery. CONCLUSION: This is the first data-driven analysis designed to relate KFS patient phenotypes to surgical intervention and provides important insight that may inform targeted follow-up regimens and surgical decision-making. LEVEL OF EVIDENCE: 3.

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.

Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.

INTRODUCTION: Klippel-Feil syndrome (KFS) occurs due to failure of vertebral segmentation during development. Minimal research has been done to understand the prevalence of associated symptoms. Here, we report one of the largest collections of KFS patient data. METHODS: Data were obtained from the CoRDS registry. Participants with cervical fusions were categorized into Type I, II, or III based on the Samartzis criteria. Symptoms and comorbidities were assessed against type and location of fusion. RESULTS: Seventy-five patients (60F/14M/1 unknown) were identified and classified as: Type I, n = 21(28%); Type II, n = 15(20%); Type III, n = 39(52%). Cervical fusion by level were: OC-C1, n = 17(22.7%), C1-C2, n = 24(32%); C2-C3, n = 42(56%); C3-C4, n = 30(40%); C4-C5, n = 42(56%); C5-C6, n = 32(42.7%); C6-C7, n = 25(33.3%); C7-T1, n = 13(17.3%). 94.6% of patients reported current symptoms and the average age when symptoms began and worsened were 17.5 (± 13.4) and 27.6 (± 15.3), respectively. Patients reported to have a high number of comorbidities including spinal, neurological and others, a high frequency of general symptoms (e.g., fatigue, dizziness) and chronic symptoms (limited range of neck motion [LROM], neck/spine muscles soreness). Sprengel deformity was reported in 26.7%. Most patients reported having received medication and invasive/non-invasive procedures. Multilevel fusions (Samartzis II/III) were significantly associated with dizziness (p = 0.040), the presence of LROM (p = 0.022), and Sprengel deformity (p = 0.036). CONCLUSION: KFS is associated with a number of musculoskeletal and neurological symptoms. Fusions are more prevalent toward the center of the cervical region, and less common at the occipital/thoracic junction. Associated comorbidities including Sprengel deformity may be more common in KFS patients with multilevel cervical fusions. These slides can be retrieved under Electronic Supplementary Material.

The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients.

STUDY DESIGN: Cross-sectional study. OBJECTIVE: To determine the prevalence of KFS in asymptomatic patients in New York State. SUMMARY OF BACKGROUND DATA: Klippel-Feil syndrome (KFS) is characterized by congenitally fused cervical vertebrae and may not be diagnosed clinically because most patients do not have the classic triad of short neck, low posterior hairline, and decreased neck range of motion. KFS may be associated with abnormalities such as congenital scoliosis and deafness, and patients are at higher risk for neurologic injury following cervical spine trauma. The prevalence of KFS has not been evaluated in a large series but is estimated to occur every 40,000 births. METHODS: A total of 3,534 cervical computed tomography (CT) scans at the emergency department of a level I trauma center were obtained during a one-year period. Duplicate scans and outside hospital imaging were excluded, resulting in 2,917 cervical CT scans for review. Demographic information was collected, and if KFS was present, level(s) fused, Samartzis classification type, and presence of cervical scoliosis and cervical spine fractures were recorded. RESULTS: The prevalence of KFS was 0.0058% (1 in 172). Of the 17 subjects with KFS, 8 were female and 9 were male. The most commonly fused levels were C5-C6 and C2-C3. All 17 subjects were classified as Samartzis type I, with a single congenitally fused cervical segment. None of the subjects had cervical scoliosis or cervical spine fractures. CONCLUSIONS: The prevalence of KFS in our series is much higher than previously described. Because clinical diagnosis may not be reliable, it is likely that this condition is underreported and may only be found incidentally on imaging. LEVEL OF EVIDENCE: Level III.

Congenital Cervical Fusion as a Risk Factor for Development of Degenerative Cervical Myelopathy.

BACKGROUND: Congenital fusion of cervical vertebrae, including Klippel-Feil syndrome (KFS), is a suspected risk factor for development of degenerative cervical myelopathy (DCM). We aimed to establish prevalence and degenerative patterns of congenital cervical fusion (CCF) among a global cohort of patients with DCM. METHODS: Data from 3 prospective DCM studies were merged, including clinical data for 813 patients and imaging for 592 patients. CCF was diagnosed by presence of fused cervical vertebrae without signs of degenerative fusion. A wasp-waist sign was used to define a KFS subgroup. Characteristics of patients with CCF and the KFS subgroup were compared with the remainder of patients with DCM. RESULTS: Twenty-three patients with CCF (14 KFS) were identified, indicating a prevalence of 3.9% (2.4% KFS). Patients with CCF were older (P = 0.02), had more operated levels (P = 0.01), had higher rates of ossified posterior longitudinal ligament (P = 0.02), and demonstrated worse degenerative changes at C3-4, including spinal cord compression (P = 0.002) and T2 weighted image T2WI signal hyperintensity (P = 0.04). Levels adjacent to fusions showed a trend toward increased spinal cord compression (P = 0.09), with fusions at C3-4 or above showing cord compression below in 9 of 10 patients, fusions at C5-6 or below having cord compression above in 8 of 8 patients, and fusions at C4-5 showed cord compression above and below in 2 of 2 patients. CONCLUSIONS: The prevalence of CCF and KFS is higher in DCM than for the general population, suggesting that these patients are predisposed to DCM development. Patients with CCF also have an altered pattern of degenerative changes, seemingly related to adjacent segment degeneration that preferentially affects midcervical levels.

Klippel-Feil syndrome in congenital scoliosis.

STUDY DESIGN: Retrospective review. OBJECTIVE: 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. SUMMARY OF BACKGROUND DATA: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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. LEVEL OF EVIDENCE: 4.

Vaginal agenesis, the hymen, and associated anomalies.

STUDY OBJECTIVES: Review anomalies in patients with vaginal agenesis. In particular, to clarify the impact of an absent hymen on the presence of other anomalies; on the success of creating a vagina with dilators; and on sexual function outcomes. DESIGN: Retrospective medical record review; questionnaire on sexual function. SETTING: Gynecology service at a children's hospital and the practice of 1 gynecologist. PARTICIPANTS: All patients with vaginal agenesis were identified from the databases, as well as the subgroup in which hymenal status was known. OUTCOME MEASURES: Data regarding hymen, renal, skeletal, cardiac, and other anomalies; for women who had a neovagina, the technique used to create a functional vagina. RESULTS: Of 69 females (age range 2-70 years), renal tract anomalies (43.3%), vertebral anomalies (29%), cardiac anomalies (14.5%), and syndromes including Klippel-Feil (7%) and MURCS association (7%) were identified. Where hymenal status was known (n = 47), 31 were normal, and 16 had an absent hymen. Where the hymen was absent, renal agenesis was increased (odds ratio = 13.5, P < .001). There was no association between other anomalies and an absent hymen, or between the various anomalies. For women without a hymen, the likelihood of failing dilation therapy was increased (odds ratio = 21.7; P < .01]. CONCLUSION: An absent hymen makes renal agenesis more likely and increases the likelihood that dilator techniques will fail. This condition appears to be associated with reports of long-term problems with poor lubrication that are potentially related to the absence of the peri-hymenal Bartholin's glands.

Klippel-Feil syndrome and associated ear anomalies.

BACKGROUND AND PURPOSE: Klippel-Feil syndrome (KFS) is a congenital segmentation anomaly of the cervical vertebrae that manifests as short neck, low hair line, and limited neck mobility. Various systemic malformations may also accompany the syndrome including wide variety of otopathologies affecting all 3 compartments of the ear (external, middle, and inner ear) as well as internal acoustic canal and vestibular aqueduct. We aimed to investigate these involvements and their clinical correlates in a group of patients with KFS. MATERIALS, METHODS, AND RESULTS: We present 20 KFS cases, of which 12 (% 60) displayed most of the reported ear abnormalities such as microtia, external ear canal stenosis, chronic ear inflammations and their sequels, anomalies of the tympanic cavity and ossicles, inner ear dysplasies, deformed internal acoustic canal, and wide vestibular aqueduct, which are demonstrated using the methods of otoscopy, audiologic testing, and temporal bone computed tomography. CONCLUSIONS: This series represents one of the highest reported rate of ear involvement in KFS. We found no correlation between the identified ear pathologies and the skeletal and extraskeletal malformations. The genetic nature of the syndrome was supported by the existence of affected family members in 4 (20%) of the cases.

Sprengel's deformity in Klippel-Feil syndrome.

STUDY DESIGN: A retrospective study. OBJECTIVES: To address the role of congenitally fused cervical segments, the degree of cervical scoliosis, and other risk factors on the presence of Sprengel's deformity (SD) in young patients with Klippel-Feil syndrome (KFS). SUMMARY OF BACKGROUND DATA: Numerous abnormalities are associated with KFS, one of the most common being SD. It has been postulated that more severe forms of KFS may be more associated with extraspinal manifestations, such as SD. METHODS: Thirty KFS patients from a single institution were reviewed. Cervical neutral lateral/dynamic/anteroposterior and thoracic anteroposterior plain radiographs were assessed. Radiographically, occipitalization (O-C1), number of congenitally fused segments (C1-T1), classification type (Types I-III), degree of cervical scoliosis, and the presence of SD was assessed. Clinical chart review entailed patient demographics and evidence of the clinical assessment of SD. The threshold for statistical significance was P < 0.05. RESULTS: There were 11 males (36.7%) and 19 females (63.3%) with a mean age of 13.5 years (range, 2.7-26.3 years). Occipitalization was present in 10 (33.3%) individuals and C2-C3 was the most common level fused (70.0%). The mean number of congenitally fused segments was 3.3 (range, 1-6 levels). The mean degree of cervical scoliosis was 17.3 degrees (range, 0 degrees-67 degrees). There were 6 (20%) Type I, 15 Type II (50.0%), and 9 Type III (30%) patients. SD was noted in 5 (16.7%) of the patients. Four patients had unilateral, whereas 1 patient had bilateral SD. There was 4.0 and 3.1 mean number of congenitally fused segments in patients with or without SD, respectively. SD did not occur in Type I patients (single fused block). The presence of SD was found to be nonsignificant regarding sex type (P = 0.327), presence of occipitalization (P = 0.300), number of congenitally fused segments (P = 0.246), specific congenitally fused segments (P > 0.05), classification type (P > 0.05), and scoliosis (P = 0.702). CONCLUSION: SD occurred in 16.7% of KFS patients. Sex type, number of congenitally fused segments, specific fused patterns, occipitalization, classification type, and the degree of cervical scoliosis did not seem to be significantly associated with the presence of SD in KFS patients in our series. Thorough examination for the presence and degree of SD in KFS is necessary, irrespective of the extent of cervical abnormalities. Alternatively, the treating physician should not dismiss a thorough cervical spine examination in patients with SD, evaluating factors that may predispose the KFS patient to an increased risk of neurologic injury.

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms.

STUDY DESIGN: A retrospective cohort and series review. OBJECTIVES: To determine the role of cervical spine fusion patterns on the development of cervical spine-related symptoms (CSS) in patients with Klippel-Feil syndrome (KFS) and evaluate age- and time-dependent factors that may contribute to fused cervical patterns and the development of the CSS. SUMMARY OF BACKGROUND DATA: Although the "hallmark" of KFS is the presence of congenitally fused cervical vertebrae, the epidemiology and role of specific cervical fused patterns are limited. In addition, the incidence of symptoms and various age- and time-dependent factors that are directly attributed to the congenitally fused cervical segments in KFS patients is unknown. METHODS: A radiographic and clinical review of 28 KFS patients at a single institution. Radiographically, Type I patients were defined as having a single congenitally fused cervical segment. Type II patients demonstrated multiple noncontiguous, congenitally fused segments, and Type III patients had multiple contiguous, congenitally fused cervical segments. Clinical records were reviewed for patient demographics, presence and type of symptoms, and clinical course. RESULTS: Twelve males and 16 females were reviewed for clinical follow-up (mean, 8.5 years) and radiographic assessment (mean, 8.0 years). The mean age at presentation was 7.1 years; mean age of onset of CSS was 11.9 years. Clinically, 64% had no complaints referable to their cervical spine. Radiographically, 25%, 50%, and 25% were Type I, Type II, and Type III, respectively. At final clinical follow-up, 2 patients were myelopathic (Type II and Type III) and 2 were radiculopathic (Type II and Type III). Type III patients were largely asymptomatic but were associated with the highest risk in developing radiculopathy or myelopathy than Type I or Type II patients. Axial symptoms were predominantly associated with Type I patients. Myelopathic patients developed initial CSS earlier (meanage, 10.6 years) than patients with predominant axial (mean age, 13.0 years) or radiculopathic symptoms (mean age, 18.6 years) (P > 0.05). Patients with radiculopathy or myelopathy were diagnosed at a mean age of 17.9 years. Type I patients were predominantly females, while males were largely Type III. Surgery entailed 11% of patients, composed of 2 myelopathic patients (Type II and Type III) and 1 radiculopathic patient (Type II). CONCLUSIONS: In our review, 36% of KFS patients had CSS and the majority had axial symptoms. Axial neck symptoms were highly associated with Type I patients, whereas predominant radicular and myelopathic symptoms occurred in Type II and Type III patients. This classification system has promise for early detection for CSS. Activity modification should be stressed in KFS patients at high risk for neurologic compromise.

[Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases]. / Klippel-Feil sendromu ve eslik eden dogumsal anomaliler: 23 olgunun incelenmesi.

OBJECTIVES: The purpose of this study was to review adult patients with Klippel-Feil syndrome. METHODS: The study included 23 male patients (mean age 20.5 years, range 19 to 27 years) with Klippel-Feil syndrome. Besides orthopedic clinical evaluation, all the patients were assessed by anteroposterior and lateral cervical flexion/extension and thoracolumbar radiographies, abdominal ultrasonography, and were subjected to systemic examinations to detect any urological, cardiological, otorhinolaryngological, neurological, and psychiatric findings. Temporal computed tomography was performed in seven patients, and cervical magnetic resonance imaging in three patients. RESULTS: Scoliosis, fusion of the cervical vertebrae (between 2-5 vertebrae), low hairline and short neck were found in all the cases. Lumbar fusion was detected in one patient. Other findings included renal agenesis (n=1), different types of hearing loss (n=9), cardiac pathologies (n=5), epilepsy (n=1), and marked (n=1) or mild (n=1) mirror movements. CONCLUSION: Patients with Klippel-Feil syndrome should be assessed for associated systemic abnormalities besides cervical fusion.

Surgical experience in 130 pediatric patients with Chiari I malformations.

OBJECT: The aim of this study was to present the long-term findings of a surgical series of pediatric patients with Chiari I malformations. METHODS: One hundred thirty symptomatic pediatric patients with Chiari I malformations underwent posterior fossa decompression. The age in this group of patients ranged from 2 months to 20 years (mean 11 years). The length of the hospital stay extended from 2 to 7 days (mean 2.7 days), and follow up was from 3 months to 15 years (mean 4.2 years). Patients most often presented with headache/neck pain (38%) and scoliosis (18%). Examples of associated diagnoses included neurofibromatosis Type 1 (5.5%), hydrocephalus (11%), idiopathic growth hormone deficiency (5.5%), and Klippel-Feil anomaly (5%). Syringes were present in 58% of patients. Seventeen percent of patients had caudal displacement of the brainstem and fourth ventricle. Postoperative relief of preoperative pathologies was experienced in 83% of patients. Of the most common presenting symptoms--headache/neck pain and scoliosis--12 and 17%, respectively, were not alleviated postoperatively. Complications occurred in 2.3% of this group and included the development of acute hydrocephalus postoperatively and severe life-threatening signs of brainstem compression that necessitated a transoral odontoidectomy. Nine patients have had to undergo repeated operations for continued symptoms or persistent large syringes. During surgery 10 patients (7.7%) were found to have arachnoid veils occluding the fourth ventricular outlet, and nine of these had syringomyelia. In our experience almost all syringes will stabilize or improve with posterior fossa decompression and duraplasty. CONCLUSIONS: The authors believe this to be the largest reported series of pediatric patients who have undergone posterior fossa decompression for Chiari I malformations.

The long-term follow-up of patients with Klippel-Feil syndrome and congenital scoliosis.

STUDY DESIGN: This study evaluated the long-term results of Klippel-Feil syndrome in patients with congenital scoliosis. OBJECTIVES: To determine the incidence of cervical and cervical-related symptoms of patients who have Klippel-Feil syndrome associated with congenital scoliosis. SUMMARY OF BACKGROUND DATA: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Risk factors in Klippel-Feil syndrome.

STUDY DESIGN: This study kinematically evaluated radiographs of the cervical spine of patients with the Klippel-Feil syndrome in flexion and in extension to determine alterations from normal motion and potential risk. OBJECTIVES: The results in the study group were compared with those of a control group and with published standards for expected motion of the cervical spine. SUMMARY OF BACKGROUND DATA: The body of orthopedic and neurologic literature suggests a significant problem with neurologic deficit in patients with Klippel-Feil syndrome. No previous study has evaluated the kinematics of the cervical spine with a control group of normal individuals and published standards. METHOD: Lateral flexion-extension radiographs of the cervical spine of 111 patients with Klippel-Feil syndrome were kinematically evaluated to determine the motion of each open interspace and to compare motion with that of a control group and published standards. RESULTS: A statistically significant difference of increased motion per open interspaces in the upper cervical segment was noted in individuals with Klippel-Feil syndrome when compared with the control population. Conversely, total motion of the lower cervical segment was significantly decreased in the Klippel-Feil population when compared with normal controls. Lower segment motion per open interspace was not significantly different when the two groups were compared. CONCLUSION: The results of this study suggest that individuals with Klippel-Feil syndrome with hypermobility of the upper cervical segment are at risk for neurologic sequelae, whereas those with alteration in motion of the lower cervical segment are predisposed to degenerative disease.

Klippel-Feil syndrome with congenital conductive deafness: report of a case and review of literature.

Klippel-Feil syndrome is a clinical triad consisting of short neck, decreased head mobility, and low occipital hairline. Additional deformities of the musculoskeletal and the neural system may also be present. Otological defects occur in about one third of these patients. They are seen either unilaterally or bilaterally and accompanied by deafness which may be perceptive, or mixed, or rarely conductive in type. They are caused either by dysplasia of the labyrinth and/or internal auditory canal, or by the middle and the outer ear. We present a report of a case of Klippel-Feil syndrome with congenital conductive deafness. Detailed radiological investigations failed to show any malformations of the middle ear. At operations, thick glue was removed from the middle ear cavities, and dehiscent fallopian canals and bulging of the facial nerve in the tympanic segment were seen. One year postoperatively, audiometry showed a hearing gain of only 20 dB on both sides. Review of the literature shows that there is a trend among the contemporary otologic surgeons to undertake curative surgery whenever possible, so as to improve the hearing, despite isolated reports of various difficulties and complications of curative surgery.

Cervico-oculo-acousticus syndrome with pregnancy.

Cervico-oculo-acousticus syndrome is a very rare entity with only 21 cases described in the world literature. A study of a case of this syndrome with pregnancy is presented. This primigravida, in addition to the classical triad of the syndrome, had other dysmorphic features such as short stature (141 cm), and marked thoracic kyphosis with restricted ventilatory capacity. Her physical activity during pregnancy was guided according to her respiratory status. In spite of marked thoracic kyphosis the cephalo-pelvic relationship was found to be adequate for a vaginal delivery. A healthy male baby weighing 3.8 kg was delivered by an outlet forceps at term. Puerperium was uneventful. The child was clinically normal at the age of 2 years.