What is the history of Klippel-Feil Syndrome?
When was Klippel-Feil Syndrome discovered? What is the story of this discovery? Was it coincidence or not?
Klippel-Feil Syndrome (KFS) is a rare congenital disorder characterized by the fusion of two or more cervical vertebrae in the neck. This condition was first described by Maurice Klippel and Andre Feil, two French physicians, in 1912 and 1919, respectively. They independently reported cases of patients with short necks, limited neck mobility, and a low hairline at the back of the head.
The exact cause of KFS is still unknown, but it is believed to result from a combination of genetic and environmental factors. Some cases are sporadic, while others may have a familial pattern of inheritance. Mutations in certain genes, such as GDF6 and GDF3, have been associated with KFS, suggesting a genetic basis for the condition.
Over the years, researchers have made significant progress in understanding the clinical features and underlying mechanisms of KFS. The syndrome is classified into three types based on the extent of vertebral fusion and associated abnormalities:
- Type I: Involves fusion of two or more cervical vertebrae with no additional abnormalities.
- Type II: Involves fusion of two or more cervical vertebrae along with additional abnormalities, such as scoliosis, rib abnormalities, and kidney malformations.
- Type III: Involves fusion of two or more cervical vertebrae along with abnormalities in other parts of the body, such as the arms, hands, or heart.
Diagnosis of KFS is typically made through physical examination, medical history, and imaging studies, such as X-rays, CT scans, or MRI scans. Treatment options for KFS focus on managing the symptoms and complications associated with the condition. Physical therapy and exercises can help improve neck mobility and strengthen muscles. In some cases, surgical interventions may be necessary to address spinal instability or correct deformities.
While KFS is a rare condition, it can have a significant impact on an individual's quality of life. The fusion of cervical vertebrae can lead to restricted neck movement, chronic pain, and neurological complications. Additionally, associated abnormalities can further contribute to the complexity of the syndrome.
Research into the genetic and molecular mechanisms underlying KFS is ongoing, with the aim of developing targeted therapies and improving patient outcomes. Advances in genetic testing and molecular diagnostics have also facilitated early detection and genetic counseling for families at risk of KFS.
In conclusion, Klippel-Feil Syndrome is a rare congenital disorder characterized by the fusion of cervical vertebrae. It was first described by Maurice Klippel and Andre Feil in the early 20th century. The syndrome has different types based on the extent of vertebral fusion and associated abnormalities. Diagnosis is made through physical examination and imaging studies, while treatment focuses on symptom management and, in some cases, surgical interventions. Ongoing research aims to further understand the genetic and molecular basis of KFS and improve patient care.
•Short, webbed neck
•Decreased range of motion (ROM) in the cervical spine
•Low hairline
Feil subsequently classified the syndrome into the following three types:
•Type I - Massive fusion of the cervical spine
•Type II - Fusion of one or two vertebrae
•Type III - Presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel-Feil syndrome
Since the original description, other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions.
In a series of articles, Samartzis et al suggested their own classification system, [1, 2] which stratified patients as follows:
•Type I - Single-level fusion
•Type II - Multiple, noncontiguous fused segments
•Type III - Multiple, contiguous fused segments
Gray et al described 462 patients with Klippel-Feil syndrome and found that the level of fusion did not greatly affect the incidence of neurologic symptoms. The most frequent level they identified was a defect of the occiput to C1, C2, and C3. These produced the most symptoms; lesions below C3 and 4 were slightly less likely to cause symptoms. Twenty-seven percent of symptoms occurred in the first decade.
Nagib et al described three types and related the incidence of neurologic symptoms to each type as follows:
•Type I - Two sets of block vertebrae with open intervening spaces that can sublux gradually or with acute trauma
•Type II - Craniocervical anomalies with occipitalization of the axis and basilar invagination; this causes increased mobility at the craniocervical level and can lead to foramen magnum encroachment; it can be associated with Arnold-Chiari malformation and syringomyelia
•Type III - Fusion of one or more levels with associated spinal stenosis
Patients with Klippel-Feil syndrome usually present with the disease during childhood, but they sometimes present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.
Posted Nov 13, 2017 by Tiffany 1100
