klippel feil

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We report an exceedingly rare case of Klippel-Feil syndrome (KFS), compounded by ipsilateral absence of the vas deferens, renal agenesis, and diaphragmatic hernia. Unilateral absence of the vas deferens was found incidentally during orchidopexy. To the best of our knowledge, no case of unilateral absence of the kidney and vas deferens has been reported in children with KFS.

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction...

BACKGROUND: There are some cases of Klippel-Feil syndrome with spinal cord injury in clinical work. However, there is no literature report on Brown-Sequard syndrome after trauma. We report a case of Brown-Sequard syndrome following minor trauma in a patient with KFS type III. Her Brown-Sequard syndrome is caused by Klippel-Feil syndrome. CASE PRESENTATION: We found a 38-year-old female patient with KFS in our clinical work. She was unconscious on the spot following a minor traumatic episode...

BACKGROUND: Klippel-Feil syndrome (KFS) occurs in 1/40,000 individuals and is characterized by cervical fusion. Thirty percent of patients with KFS present with Sprengel deformity, leading to orthopedic problems and limited shoulder abduction. No reports exist regarding anesthetic procedures for pediatric scapular osteotomies. CASE PRESENTATION: We report a case of a 4-year-and-7-month-old boy (95.6 cm, 14.7 kg) who underwent left scapular osteotomy. At the age of 8 months, he also underwent a right lower lobectomy due to a congenital pulmonary airway malformation...

Cervical spine assessment is an important step in patients who sustained trauma. Klippel-Feil syndrome (KFS) is a complex syndrome with an abnormal fusion of cervical vertebrae at C2 and C3, which is caused by a failure in the division or normal segmentation of the cervical spine vertebrae in early fetal development. This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility. People with congenital defects like KFS are more prone to cervical spine injury...

CASE: A 22-year-old woman with Klippel-Feil syndrome who underwent cervical disc arthroplasty (CDA) presented 3 months postoperatively with worsening neck pain and radiculopathy. Work-up was negative for infection, but single-photon emission computed tomography revealed increased metabolic activity in the vertebral body below the implant. During revision, the implant was grossly loose and multiple cultures grew Cutibacterium acnes. She was treated with an antibiotic course and conversion to anterior fusion without recurrence...

BACKGROUND CONTEXT: In the setting of "sandwich deformity" (concomitant C1 occipitalization and C2-3 non-segmentation), the C1-2 joint becomes the only mobile joint in the craniovertebral junction. Atlantoaxial dislocation develops earlier with severer symptoms in sandwich deformity, which has been hypothesized to be due to the repetitive excessive tension in the ligaments between C1 and C2. PURPOSE: To elucidate whether and how the major ligaments of the C1-2 joint are affected in sandwich deformity, and to find out the ligament most responsible for the earlier development and severer symptoms of atlantoaxial dislocation in sandwich deformity...

Weakness of the muscles of the nape of the neck and back of the spine and its related instability is the nodal point of pathogenesis of a number of clinical and pathological events at the craniovertebral junction and the spine. Whilst acute instability results in sudden and relatively severe symptoms, chronic or long-standing instability is associated with a range of musculoskeletal and structural spinal alterations. Telescoping of the spinal segments results in "vertical" spinal instability in the subaxial spine and central or axial atlantoaxial instability (CAAD) at the craniovertebral junction...

BACKGROUND: Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy. OBJECTIVE: To describe the transmandibular approach in a KFS patient with cervical myelopathy and to perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. METHODS: A systematic review was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines...

A 59-year-old male, with a recent history of acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia, presented to a chiropractor with a one-week history of numbness in the right upper and lower extremity that was triggered by neck movement, and lightheadedness/dizziness. On examination, the chiropractor noted limited, painful cervical spine range of motion, right upper extremity weakness, patellar hyperreflexia, positive Hoffman's and Trömner's signs bilaterally, nystagmus, a sluggish right pupillary light reflex, and carotid bruit...

OBJECTIVE: Multiple hemivertebrae (MHV) is defined as three or more hemivertebrae, and is relatively uncommon among patients with congenital scoliosis. This study aimed to compare the natural history of different kinds of MHV and describe the surgical outcome of MHV. METHODS: In this retrospective cohort study, a total of 50 patients diagnosed with MHV were enrolled from June 2007 to June 2018. The medical records and radiographs of these patients were reviewed to summarize the characteristics of MHV...

PURPOSE: To evaluate the approaches to treatment of congenital and bone-dysplasia-related pediatric cervicothoracic dislocations and define the optimal treatment method. METHODS: The publications available in PubMed and Google Scholar data bases were selected following such criteria as the disease in question, pediatric age, the treatment description, and follow-up results. The paper also includes the descriptions of our own six cases of the cervicothoracic dislocations detected in children with different vertebral malformations...

Genetic diseases affecting the skeletal system present with a wide range of symptoms that make diagnosis and treatment difficult. Genome-wide association and sequencing studies have identified genes linked to human skeletal diseases. Gene editing of zebrafish models allows researchers to further examine the link between genotype and phenotype, with the long-term goal of improving diagnosis and treatment. While current automated tools enable rapid and in-depth phenotyping of the axial skeleton, characterizing the effects of mutations on the craniofacial skeleton has been more challenging...

OBJECTIVE: The authors reviewed their scientific publications and updated their clinical material obtained over the last 12 years for cases of central or axial atlantoaxial dislocation (CAAD) identified in the presence of craniovertebral musculoskeletal and/or neural alteration(s). The management implications of diagnosing and treating CAAD are highlighted. METHODS: During a 12-year period, CAAD was diagnosed in 393 patients with craniovertebral junction-related musculoskeletal and neural alterations who underwent atlantoaxial fixation...

BACKGROUND: Patients with "sandwich" fusion (concomitant C1 occipitalization and C2-C3 nonsegmentation), a subtype of Klippel-Feil syndrome, are at particular risk for developing atlantoaxial dislocation (AAD). However, the clinical and surgical characteristics of AAD in patients with sandwich fusion have not been clearly defined. METHODS: A retrospective case-control study with a large sample size and a minimum 2-year follow-up was performed. From 2000 to 2018, 253 patients with sandwich AAD underwent a surgical procedure; these patients constituted the case group, and a matching number of patients with non-sandwich AAD were randomly selected to form the control group...

Cochlear implantation (CI) can be safely performed in patients with syndromic hearing loss. Here we present a case of CI in a child with Klippel-Feil syndrome with various skeletal, extraskeletal, cochleovestibular and Arnold-Chiari malformations. Multidisciplinary approach and good preoperative imaging play a key role in planning for surgery.

Klippel-Feil syndrome (KFS) is a congenital skeletal disorder with classic clinical triad consisting of short neck, low hairline, and limitation of neck movement. In addition to skeletal deformities, diagnosed cases of KFS may have other anomalies such as cardiac, neurologic, and genitourinary disorder. We report a case of KFS with associated anomalies such as short neck, limitation of neck movement, scoliosis of cervical spine, and dextrocardia who received successful cadaveric kidney transplantation. This article aims to present kidney transplantation as option of treatment in KFS patient with ESRD and emphasize on the difficulty in airway management of this patient...

BACKGROUND: Klippel-Fiel syndrome (KFS) is a rare congenital skeletal disorder characterized clinically by presence of a triad of short neck, limited neck mobility (due to fused cervical vertebrae) and low posterior hair line. It was first described by Maurice Klippel and Andre Feil in 1912. Various skeletal and non-skeletal anomalies may be seen in association with KFS. CASE PRESENTATION: This report aims to highlight orofacial manifestations of a 16-year-old male patient with KFS along with a rare presentation of bilateral osteoarthritic changes in the temporomandibular joint...

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