klippel -trenaunay

BACKGROUND: Sprengel's deformity is a congenital abnormality of the shoulder girdle. Because scapular retraction, such as the Green procedure, is usually performed during childhood to improve esthetics and shoulder function, Sprengel's deformity is rarely found in older patients. CASE PRESENTATION: We presented a unique case of a Japanese female cadaver with Sprengel's deformity at the age of 80 years. Anatomical dissection and radiological imaging revealed musculoskeletal anomalies associated with Sprengel's deformity, including Klippel-Feil syndrome, presence of an omovertebral bone, and absence of the trapezius muscle...

PURPOSE: Klippel-Feil syndrome (KF) is a rare disease defined as single or multi-level cervical vertebra fusion. KF could be accompanied by other spinal anomalies or isolated, and in which case necessity of whole spine screening is not clearly known. KF is investigated in terms of prevalence, gender distribution, fusion types, and frequency of accompanying anomalies according to types of KF. METHODS: Approval from our hospital's ethics committee was received for this single-center, retrospective study...

Objectives and Background : To present a novel technique of treatment for a patient with basilar invagination. Basilar invagination (BI) is a congenital condition that can compress the cervicomedullary junction, leading to neurological deficits. Severe cases require surgical intervention, but there is debate over the choice of approach. The anterior approach allows direct decompression but carries high complication rates, while the posterior approach provides indirect decompression and offers good stability with fewer complications...

Prenatal diagnosis of myelomeningocele remains challenging for obstetricians, ultrasonographers, and radiologists, although the increased maternal serum alpha-fetoprotein level aids in the confirmative diagnosis. Fetal cervical myelomeningocele and meningocele are very rare and unique types of myelomeningocele. Prenatal diagnosis of cervical myelomeningocele and meningocele should include the differential diagnosis and association of many intracranial and spino-skeletal pathogenetic variants and genetic diseases, including subependymal nodular heterotopia and Klippel-Feil syndrome...

Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related abnormalities have been reported. This article reports a case of mitral valve regurgitation in a patient with Klippel-Feil syndrome and related thoracic deformity who underwent mitral valvuloplasty. Postoperatively, the mitral valve regurgitation disappeared, and there has been no recurrence for 3 years. This case highlights mitral valvuloplasty via median sternotomy as an excellent treatment for mitral valve regurgitation in a patient with thoracic deformity related to Klippel-Feil syndrome...

Cotard syndrome is a rare presentation where patients present with nihilistic thoughts of dying or already being dead. These delusions manifest from either a medical or psychiatric etiology and can be difficult to treat. Recently Couto and Gonçalves purposed that treatment should include an atypical antipsychotic alone or in combination with either a mood stabilizer or antidepressant. Here the authors advocate for a more specific but well-known psychotropic regimen, namely the combination of olanzapine and fluoxetine...

BACKGROUND: The Klippel-Feil syndrome (KFS) is a rare congenital anomaly characterized by the fusion of cervical vertebrae, which may be associated with other malformations, such as dermoid tumors and teratoma. Some theories explain the embryology of these associations. Another condition that may be present is the dermal sinus (DS), communication between intracranial tumors and the subcutaneous tissue, and predisposing infections. This case report aims to describe an association between these three pathologies as well as correlate them from the literature...

Neurenteric cysts are rare and account for only 0.7%-1.3% of all spinal tumors. Spinal neurenteric cysts are associated with spina bifida, split-cord malformations, and Klippel-Feil syndrome, a rare congenital disorder characterized by fusion of two or more cervical vertebrae. Klippel-Feil syndrome is rarely accompanied by neurenteric cysts. In this case report, we describe a cervicothoracic junction neurenteric cyst associated with Klippel-Feil syndrome in a 30-year-old man who presented with a 2-month history of neck pain with radiation of pain into both arms and a 1-month history of weakness in the left arm...

BACKGROUND: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae during early prenatal development. This fusion results from a failure of segmentation during the first trimester. Although six genes have previously been associated with KFS, they account for only a small proportion of cases. Among the distinct subtypes of KFS, "sandwich fusion" involving concurrent fusion of C0-1 and C2-3 vertebrae is particularly noteworthy due to its heightened risk for atlantoaxial dislocation...

White cord syndrome is a rare entity, as there are very few cases described in the current literature. Postoperative MRI examination reveals cord intrinsic changes, including edema and ischemia. It is also described as a reperfusion injury of the spinal cord. This report depicts a rare case of "white cord syndrome" with tetraplegia after posterior laminectomy and fusion of the cervical spine in a patient with Klippel-Feil syndrome. A 33-year-old male patient with Klippel-Feil syndrome presented to our department with cervical myelopathy, claudication, deteriorating neurological status, imbalance, and lower limb spasticity...

A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms. We present a rare case of a 25-year-old male with chronic neck and occipital pain, along with progressive weakness and sensory disturbances in all four limbs, urinary urgency, and elevated left shoulder...

OBJECTIVE: The purpose of this study was to identify factors associated with fusion success among pediatric patients undergoing occiput-C2 rigid instrumentation and fusion. METHODS: The Pediatric Spine Study Group registry was queried to identify patients ≤ 21 years of age who underwent occiput-C2 posterior spinal rigid instrumentation and fusion and had a 2-year minimum clinical and radiographic (postoperative lateral cervical radiograph or CT scan) follow-up...

BACKGROUND: A significant proportion of people with Parkinson's disease (PwPD) die in hospital settings. Although one could presume that most PwPD would favor being cared for and die at home, there is currently no evidence to support this assumption. OBJECTIVE: We aimed at exploring PwPD's preferences for place of end-of-life care and place of death, along with associated factors. METHODS: A cross-sectional study was conducted to investigate PwPD's end-of life wishes regarding their preferred place of care and preferred place of death...

BACKGROUND: One of the major challenges in operating on the spine lies in taking an anterior approach for the high cervical spine. In patients with a short neck, Klippel-Fiel syndrome or when the C3 vertebra is high in relation to the hyoid bone, it will be difficult to access the C3 body. The transoral route is a highly contaminated zone, and therefore, no instrumentation or grafts can be placed through it. METHOD: The anterior retropharyngeal approach (ARPA) for the high cervical spine...

BACKGROUND: Klippel-Feil syndrome is a rare congenital bone disorder characterized by an abnormal fusion of two or more cervical spine vertebrae. Individuals with Klippel-Feil syndrome exhibit diverse clinical manifestations, including skeletal irregularities, visual and hearing impairments, orofacial anomalies, and anomalies in various internal organs, such as the heart, kidneys, genitourinary system, and nervous system. CASE PRESENTATION: This case report describes a 12-year-old Pashtun female patient who presented with acute bilateral visual loss...

The goal of this paper is to fabricate innovative diaphragm headphones using graphene oxide paper (GOP) and GOP/epoxy nanocomposites (GOPC). Initially, graphene oxide suspension is fabricated, and the vacuum filtration method is adopted to make GOP. Then, vacuum bag molding is used to fabricate GOPC from GOP. Hot pressing and associated molds are adopted to fabricate line-indented (GOPC-L) or curve-indented patterns (GOPC-C) on the GOPC. The performances of one kind of GOP and three kinds of GOPC diaphragm headphones are analyzed based on their sound pressure level (SPL) curves achieved by the Soundcheck measurement system...

forming a bony opening through which the vertebral artery (VA) enters the vertebral canal. Block vertebra is a synostosis of at least two vertebral bodies that did not separate during the embryological development. It is worth distinguishing it from the Klippel-Feil syndrome, as the latter oftentimes involves other abnormalities (namely skeletal) and is typically diagnosed in childhood. Both variants could potentially lead to an impairment of the blood flow through the VA. Case report: The following case report presents a finding of two anomalies of the cervical spine, found in a 38 y...

No abstract text is available yet for this article.

Multiple primary intracranial tumors, or the presence of two or more primary intracranial tumors, are a rare clinical occurrence. The current study presents the case of a 28-year-old patient with concurrent left vestibular schwannoma, left cerebellar hemisphere dermoid cyst and craniovertebral junction malformation, specifically basilar invagination and Klippel-Feil syndrome. The patient exhibited symptoms of torticollis and recurrent headaches, with no apparent hearing loss. A far lateral approach was selected for surgical resection to address these complex conditions and achieve gross total resection in a single-stage surgery while preserving both facial and auditory nerve function...

BACKGROUND: While evidence shows that people with early psychosis are flexible in using different emotion regulation (ER) strategies to manage the varying contextual demands, no studies have examined the effectiveness of such regulatory flexibility in this population. We addressed this issue by investigating whether and how ER flexibility relate to different dynamic aspects (variability, instability, inertia, and recovery) of negative affect (NA) in a combined early psychosis sample, consisting of both individuals at high clinical risk for psychosis and those diagnosed with first-episode psychosis...