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E1907. On the Trail of Klippel Feil Syndrome: A Case-Based Review
Authors
  1. Felipe Rojas Borda; Hospital Militar Cental
  2. Graciela Madero; Hospital Militar Cental
  3. Angel Donato; Hospital Militar Cental
Background
Klippel-Feil syndrome (KFS) is a heterogeneous complex with skeletal disorder characterized by the congenital fusion of two or more cervical vertebrae and clinically represented by short neck, low hairline, and restricted neck movements [1][2]. Currently, the etiology of the malformation is uncertain, however, all writers agree that, whatever the changes may be, they take place within the uterus [3][4]. KFS can be asymptomatic in people with minimal bone involment and no significant symptoms or restrictions, nevertheless KFS which may result in articular instability [5][6]. Plain radiograph is a valuable form of diagnosis using the CT and MRI to identify complications [7]. Common radiograph findings include, vertebral fusion (mainly C2-C3 or C5-C6), fused facets and spinous processes, fusion of the first cervical vertebra to the occiput; anteroposterior narrowing of the vertebral bodies (wasp-waist sign), hemivertebrae, spina bifida and kyphosis of the upper dorsal spine [7][8]. Additionally, it is possible to find extra columnar affection such as elevation of the right scapula, right cervical rib; and narrowing of the intercostal spaces in the left mid thorax [9][10]. CT (computed tomography) is indicated when potentially unstable lesions are seen on the plain radiograph and it is able to demonstrate canal stenosis, on the other hand, it is a tool to value bone anatomy [11][12]. MRI (magnetic resonance imaging) is indicated in patients with neurologic deficits, MRI is a useful tool and should be used to evaluate cord abnormalities and cord compression [13][14]. MRI imaging can also reveal associated conditions such as myelomalacia, syringohydromyelia, diastematomyelia, diplomyelya and Chiari I malformation [15][16]. Nowadays there is no specific treatment for Klippel-Feil syndrome appealing to the surgery in some cases [17][18]. This syndrome can be suspected with physical examination and diagnosed by radiography prematurely avoiding future complications. The objective of this exhibition is to describe the radiological and clinical findings of a patient with KFS syndrome through illustrated clinical cases.

Educational Goals / Teaching Points
The purpose of this education exhibit is to understand the common findings of KFS on plain radiograph. After taking part in this exhibition the learner will be able to recognise the usefulness of the MRI and CT in KFS. We will expose clinical cases with radiological and clinical correlation to characterize KFS.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
This syndrome is a result of failure of the normal segmentation of the cervical somites during the 3rd to 8th weeks of gestation. The etiology is uncertain, there are different theories, intrauterine inflammation or trauma; genetic factors; hereditary syphilis and lesions of the central nervous system [7]

Conclusion
KFS is an infrequent diagnosis, therefore, a premature recognition of the entity allows an early rehabilitation when it is necessary to minimize future complications. Additionally, it is necessary to recognize the multiple extra-columnar manifestations of KFS for an adequate multisystem assessment.