Klippel-Feil Syndrome: Clinical Presentation and Management.

¼: Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood. ¼: Recent studies have indicated that KFS is more prevalent than previously described. ¼: Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma. ¼: Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease. ¼: Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.

Klippel-Feil syndrome (KFS), or congenital fusion of the cervical vertebrae, has been thought to be an extremely rare diagnosis. However, recent literature suggests an increased prevalence, with a high proportion of asymptomatic individuals. Occurring as a sporadic mutation or associated with several genes, the pathogenesis involves failure of cervical somite segmentation and differentiation during embryogenesis. Most commonly, the C2-C3 and C5-C6 levels are involved. KFS is associated with other orthopaedic conditions including Sprengel deformity, congenital scoliosis, and cervical spine abnormalities, as well as several visceral pathologies. There are several classification systems, some based on the anatomic levels of fusion and others on its genetic inheritance. Management of patients with KFS primarily involves observation for asymptomatic individuals. Surgical treatment may be for neurologic complaints, correction of deformity, concomitant spinal anomalies, or for associated conditions and varies significantly. Participation in sports is an important consideration. Recommendations for contact sports or activities depend on both the level and the number of vertebrae involved in the fusion. A multidisciplinary team should be involved in the treatment plan and recommendations for complex presentations.

Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia: A Case Report.

STUDY DESIGN: Case report. OBJECTIVE: Since this is the first ever case of a male patient with Klippel-Feil syndrome (KFS) with anterior cervical meningomyelocele and syringomyelia. All four previously reported cases were female patients. This makes this case unique. SUMMARY OF BACKGROUND DATA: KFS with auxiliary anterior cervical meningomyelocele is a rare entity. To the best of our knowledge so far only four cases are reported. METHODS: A 22-year-old male patient was presented to neurology outpatient department with 2-year history of left hand paresthesia and progressive weakness. The diagnostic evaluation showed KFS with auxiliary anterior cervical meningomyelocele and thoracic syringomyelia. RESULTS: Patient was sent to neurosurgery department for intervention. After discussing the possible risks and complications of intervention he opted for conservative therapy and declined the surgery. CONCLUSION: The paucity of data is the key reason for any recommended protocol for management of such patients but the available literature recommends neurosurgical intervention in symptomatic patients. LEVEL OF EVIDENCE: 5.

Klippel-Feil syndrome misdiagnosed as spondyloarthropathy: case-based review.

Spondyloarthropathy refers to any joint disease of the vertebral column, but the term is mainly used for a specific group of disorders called seronegative spondyloarthropathies (SpAs). The axial skeletal involvement, peripheral and extra-articular manifestations and an association with the major histocompatibility complex class I human leukocyte antigen-B27 (HLA B27) are commonly shared features of SpAs. Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of one or more cervical vertebrae, accompanied by various skeletal and extra-skeletal anomalies. We report a case of an adult male patient with HLA B27 positivity presenting with chronic cervical spine pain accompanied by morning stiffness and periodic night pain, with radiologically confirmed ankylosis and fusion of several cervical segments. His medical history included urogenital abnormalities operated in childhood and mild mitral prolapse. Initially suspected diagnosis of an early axial form of SpA was rejected after thorough workup. Instead, the nature of vertebral defects along with the past medical history of urogenital and cardiac abnormalities pointed towards the diagnosis of KFS. HLA B27 presence can be a confounder in patients presenting with spinal pain and that is why the differential diagnosis of CSD-s and SpA can be challenging in some patients.

Síndrome de Klippel-Feil: a propósito de un caso en Ecuador / Klippel-Feil syndrome: about a case in Ecuador

El síndrome de Klippel-Feil (KFS) es un grupo heterogéneo de malformaciones a nivel vertebral que presentan un componente genético monogénico; se caracteriza por presentar un defecto en la formación o segmentación de las vértebras cervicales, que da como resultado una apariencia fusionada. La tríada clínica consiste en un cuello corto, una línea de implantación baja del cabello y un movimiento limitado del cuello. Presentamos el caso de un paciente masculino de 17 años que manifiesta los hallazgos clínicos y radiológicos de esta anomalía. (AU)

Klippel-Feil syndrome (KFS) is a heterogeneous group of vertebral malformations that presents a monogenic genetic component, characterized by a defect in the formation or segmentation of the cervical vertebrae, which results in a fused appearance. The clinical triad consists of a short neck, a low hairline and a limited movement of the neck. We present the case of a 17 year-old male patient who presented the clinical and radiological findings of this anomaly. (AU)

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children.

IMPORTANCE: Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. OBJECTIVE: To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. DESIGN, SETTING, AND PARTICIPANTS: For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. MAIN OUTCOMES AND MEASURES: The primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. RESULTS: Overall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. CONCLUSIONS AND RELEVANCE: Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures.

Airway management in newborn with Klippel-Feil syndrome / Manejo de vias aéreas em recém-nascido com síndrome de Klippel-Feil

Abstract Klippel-Feil syndrome (KFS) has a classical triad that includes short neck, low hair line and restriction in neck motion and is among one of the congenital causes of difficult airway. Herein, we present a 26-day, 3300 g newborn with KFS who was planned to be operated for correction of an intestinal obstruction. She had features of severe KFS. Anesthesia was induced by inhalation of sevoflurane 2-3% in percentage 100 oxygen. Sevoflurane inhalation was stopped after 2 min. Her Cornmack Lehane score was 2 and oral intubation was performed with 3.5 mm ID non-cuffed endotracheal tube in first attempt. Operation lasted for 45 min. Following uneventful surgery, she was not extubated and was transferred to the newborn reanimation unit. On the postoperative third day, the patient died due to hyperdynamic heart failure. This case is the youngest child with Klippel-Feil syndrome in literature and on whom oral intubation was performed. We also think that positioning of this younger age group might be easier than older age groups due to incomplete ossification process.

Resumo A síndrome de Klippel-Feil (SKF) envolve uma tríade clássica que inclui pescoço curto, linha de implantação dos cabelos baixa e restrição do movimento do pescoço e é uma das causas congênitas de via aérea difícil. Apresentamos o caso de uma recém-nascida, de 26 dias, 3.300 g de peso, com SKF, que foi agendada para cirurgia de correção de uma obstrução intestinal. A paciente apresentava características acentuadas da SKF. A anestesia foi induzida com inalação de sevoflurano a 2-3% em 100% de oxigênio. A inalação de sevoflurano foi interrompida após dois minutos. O escore de Cormack-Lehane da paciente era 2 e a intubação orotraqueal foi feita na primeira tentativa, com tubo endotraqueal de 3,5 mm ID sem balão. O tempo de cirurgia foi de 45 minutos. Após a cirurgia sem intercorrências, a paciente foi transferida para a unidade de reanimação neonatal ainda intubada. No terceiro dia de pós-operatório, foi a óbito por causa de uma insuficiência cardíaca hiperdinâmica. Esse caso apresenta a criança mais jovem com síndrome de Klippel-Feil na literatura e na qual a intubação orotraqueal foi feita. Acreditamos também que o posicionamento de pacientes dessa faixa etária mais jovem pode ser mais fácil do que o de pacientes de faixas etárias mais altas, por causa do processo de ossificação incompleto.

Airway management in newborn with Klippel-Feil syndrome.

Klippel-Feil syndrome (KFS) has a classical triad that includes short neck, low hair line and restriction in neck motion and is among one of the congenital causes of difficult airway. Herein, we present a 26-day, 3300g newborn with KFS who was planned to be operated for correction of an intestinal obstruction. She had features of severe KFS. Anesthesia was induced by inhalation of sevoflurane 2-3% in percentage 100 oxygen. Sevoflurane inhalation was stopped after 2min. Her Cornmack Lehane score was 2 and oral intubation was performed with 3.5mm ID non-cuffed endotracheal tube in first attempt. Operation lasted for 45min. Following uneventful surgery, she was not extubated and was transferred to the newborn reanimation unit. On the postoperative third day, the patient died due to hyperdynamic heart failure. This case is the youngest child with Klippel-Feil syndrome in literature and on whom oral intubation was performed. We also think that positioning of this younger age group might be easier than older age groups due to incomplete ossification process.

[A child with Klippel-Feil syndrome in whom GlideScope was effective for tracheal intubation].

GlideScope videolaryngoscope (GlideScope, herein-after referred to as "GS", Verathon Medical, Bothell, WA, USA), with a high-resolution camera positioned on a blade, enables operators to confirm the position of the larynx and a tube through clear view, thereby conducting intubation safely in a patient whose neck is difficult to be bent back. As the blade is slim, GS is indicated for use in children whose oral cavity is narrow. We herein report safe and smooth intubation with GS in a child with Klippel-Feil syndrome in whom difficult intubation was predicted.

Management of Klippel-Feil syndrome combined with Turner syndrome: a case report.

A 12-year-old female with Klippel-Feil syndrome (KFS) combined with Turner syndrome (TS) and a submucous cleft palate (CP) was presented. The patient reportedly had TS and had received growth hormone (GH) therapy. Because of her skeletal Class III pattern with a steep mandibular plane angle, facial asymmetry, and fused cervical vertebrae, the effects of the GH on her craniofacial complex needed to be considered at the start of orthopedic/orthodontic treatment. To manage submucous CP with severe maxillary deficiency, a rigid external distraction (RED) device was used. The total active treatment time was 34 months including distraction osteogenesis (DO). Treatment improved both her occlusion and facial appearance.

A case of Klippel-Feil syndrome with congenital enlarged Eustachian tube.

The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardiovascular and urogenital systems. One of the anomalies which have not been thoroughly investigated to date are that accompanying Klippel-Feil syndrome and enlarged Eustachian tube. We report a case of type III Klippel-Feil syndrome with associated rib anomalies such as hypoplastic and bifid ribs, scoliosis and elevated scapula (Sprengel's disease). The patient also presented hemifacial microsomia and central facial palsy of the lower right side of the face, urogenital and cardiovascular anomaly, congenital anorectal atresia and right-sided congenital aural atresia with microtia. Computer tomography of temporal bone showed abnormal extension of the right Eustachian tube with anomalies of the middle and inner ear on this particular side. In this case report we discuss the associated anomalies of the patient with Klippel-Feil syndrome. The aim of this case report is to draw attention to very rare case of patient with Klippel-Feil syndrome and enlarged pharyngotympanic tube.

[Clinical and therapeutic approach to Klippel-Feil syndrome in the primary care medicine]. / Tratamiento en el primer nivel del síndrome de Klippel-Feil.

A case of Klippel-Feil syndrome in a female nine years is informed. The patient presented a clinical picture compatible with Klippel-Feil syndrome: short neck with joint movements diminished and low hair implantation. We showed the diagnostics and treatment approach at the primary medicine level, the follow-up until the presence of clinical manifestations of the main clinical problems associated. The liver, cardiovascular, audiology, and muscle-bones are describe and finally some aspects of her physical rehabilitation.

Un caso raro de cervicalgia crónica: el síndrome de Klippel-Feil / A rare case of chronic cervical pain: the Klippel-Feil syndrome

Mujer de 36 años con dolor cervical mecánico y hombro izquierdo irradiado por extremidad superior, 4° y 5° dedos mano izquierda, crónico y discreta pérdida de fuerza y sensibilidad. No hay hipoacusia, síntomas urinarios ni cardiológicos. Exploración: orejas, implantación del pelo y longitud cervical normal. Dolor al palpar apófisis espinosas de vértebras y músculos cervicales. Disminución de sensibilidad táctil y dolorosa en zona cubital de mano izquierda, 4° y 5° dedos. Rx C. Cervical: fusión de vertebras C3-C4 y C7-D1. RMN C. Cervical: Fusión de vertebras C2-C3 y T1-T2. EMG: datos de atrapamiento del mediano en Túnel del Carpo. Diagnóstico: síndrome de Klippel-Feil. El síndrome de Klippel-Feil es una enfermedad rara, congénita del grupo de las malformaciones de la charnela craneocervical, que consiste en la fusión de dos o más vértebras cervicales; asociado a veces a defectos en sistema genitourinario, nervioso, cardiopulmonar y pérdida auditiva (AU)

A 36 year-old woman, with mechanical neck and left shoulder pain radiating to the arm, 4th and 5th fingers of the left hand, with a chronic and modest loss of strength and sensitivity. No loss of hearing; no urinary or cardiological symptoms. Physical Examination: Ears, hair implantation and neck length normal. Pain on palpation of vertebral spine apophyses and neck muscles. A decrease in tactile sensitivity and painful in the left hand cubital area, 4th and 5th fingers. Rx Spinal Column: Fusion of vertebrae C3-C4 y C7-D1. NMR Spinal Column: Fusion of vertebrae C2-C3 y T1-T2. EMG: signs of median nerve trapping in Carpal Tunnel. Diagnosis: Klippel-Feil Syndrome. Klippel-Feil Syndrome is a rare congenital disease of the group of craniocervical hinge malformation, which consists of the fusion of two or more vertebrae. It is occasionally associated with genitourinary system, nerve, cardiopulmonary defects and hearing loss (AU)

[Audiological evaluation of a child with Klippel-Feil syndrome]. / Klippel-Feil sendromlu bir çocukta odyolojik degerlendirme.

A 6-year-old boy with formerly diagnosed Klippel-Feil syndrome (KFS) presented with complaints of hearing loss, speech disorder, and problems related to his hearing aid. Clinical examination and computed tomography showed bilateral external and middle ear anomalies and audiological examination revealed bilateral severe conductive hearing impairment. The patient was prescribed a bone conduction hearing aid and, with necessary consultations, was examined for additional physical anomalies. All children with a diagnosis of KFS should be evaluated with audiologic and otologic examinations, consultations should be implemented with other disciplines concerning the presenting problems, a regular follow-up should be scheduled, and the parents should be informed on possible complications.

Occipitoatlantoaxial instability and congenital thoracic vertebral deformity in Pierre Robin sequence: a case report.

STUDY DESIGN: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity. OBJECTIVE: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the consultations that we consider that are obligatory, and our decision-making process. We would also like to demonstrate the follow-up plan and the further key points about either the conservative or the surgical solution of the problem. SUMMARY OF BACKGROUND DATA: The occurrences of 2 malformations (Pierre Robin sequence and occipitoatlantoaxial instability) together are very rare. We have found only 1 publication in the related literature about this topic. We consider that this rare appearance is due to the difficulty in diagnosing this problem. There is no clinical evidence that musculoskeletal examinations are indicated in a patient with Pierre Robin sequence, and it is difficult to check for all the possible deformities. METHOD: As congenital scoliosis appeared only at 6 years of age in the case of this child with Pierre Robin syndrome, we promptly began to investigate for other musculoskeletal defects. We would like to demonstrate the investigation process and emphasize the necessity of conventional and functional radiographs, computed tomography, and magnetic resonance images. RESULTS: We have not found similar cases to refer to, so we made our decision about conservative treatment of the craniocervical instability knowing that we will have to follow up the progression of both the congenital thoracic scoliotic deformity and the occipitoatlantoaxial instability later. CONCLUSION: To recognize a rare case is a big challenge indeed due to the lack of the investigational protocol, the key points of the decision process, the prognostic classification system, and the progression of the disease. We recommend that one should individualize and follow up the patient frequently.

Congenital anomalies of the cervical spine.

There are numerous congenital anomalies of the cervical spine. They can be simple and clinically inconsequential to complex with serious neurologic and structural implications. They can occur in isolation or as one of several maldeveloped organs in the patients. Many are discovered incidentally. The more common anomalies seen by pediatric spine surgeons include defects of the anterior or posterior arches of C1, occipital assimilation of the atlas, basilar invagination or impression, os odontoideum, and Klippel-Feil syndrome. Management begins with a detailed history, physical examination, and imaging studies. In general, those lesions that are causing or have caused neurologic injury, chronic pain, or spinal deformity or place the patient at high risk for developing these require treatment.

Klippel-Feil syndrome.

The triad of short neck, low posterior hairline and severe restriction of cervical motion is a classic definition of Klippel-Feil syndrome. The anatomic and clinical expressions of this syndrome vary widely, ranging from mild cosmetic deformity to severe disability. The diagnosis is usually apparent on lateral cervical radiographs.