Klippel feil syndrome kfs is a rare congenital anomaly of the cervical spine, which is associated with a number of cardiovascular malformations, including coarctation of the aorta, bicuspid aortic valve baov, and aortic aneurysm. Thirty five were found to have abnormalities on audiological. The skeletal anomalies of the klippel feil syndrome are present also in the adult with syringomyelia,1 in the adolescent with diastematomyelia,2 and in the infant with myelomeningocele. It is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more cervical vertebrae. Radiologically, there is a failure of cervical segmentation. Klippel feil syndrome symptoms, causes, treatment, life expectancy, pictures and photos. We present the case of a 38yearold primiparous woman with type iii klippel. Klippel feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryos developing axis during weeks 38 of gestation. Klippel feil syndrome kfs is a congenital, musculoskeletal condition. Klippelfeil syndrome is a clinical triad consisting of fusion of cervical and sometimes other vertebrae, with associated shortening of the neck, limited head motion, and a low posterior hairline. Klippel feil syndrome an overview sciencedirect topics.
Herein, we report a case of a 6yearold girl with coexistence of these congenital. Klippel feil syndrome is defined as congenital fusion of two or more cervical vertebrae. An inbred kindred with 12 cases of klippel feil syndrome seven females and five males is reported. Type iii fusion of one or more levels with associated spinal stenosis. Diagnosis and management of klippelfeil syndrome request pdf. Manifestation of these characteristics varies widely. Due to this fusion, patients with kfs have limited neck mobility along with neck and back pain and often chronic headaches. The classic clinical triad of klippelfeil syndrome. The main characteristic of the syndrome is fusion of cervical vertebrae. Aortic stenosis of a bicuspid aortic valve in a patient.
An inbred kindred with 12 cases of klippelfeil syndrome seven females and five males is reported. Klippel feil syndrome kfs is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Klippelfeil syndrome forms in utero when genes gdf6 or gdf3 mutate. Pdf autosomal recessive klippelfeil syndrome semantic. Surgical treatment in a patient with klippel feil syndrome and anterior cervical meningomyelocele. Audiological abnormalities in the klippelfeil syndrome. Klippel feil syndrome is believed to occur from failure of normal segmentation of cervical somites during gestation. A classic triad is often associated with klippel feil, consisting of cervical fusion, short neck, and a low hairline. Persons with klippel feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Klippelfeil syndrome pictures, symptoms, treatment, causes. The scoliosis sos clinic has now been open for over 10 years, and in that time weve treated a number of people who suffer from klippel feil syndrome. Klippel feil syndrome kfs is a congenital anomaly resulting from fusion of cervical vertebral bodies secondary to the dysregulation of signaling pathways during somite development. Congenital fusion of two or more cervical vertebrae.
Deafness is a well known associated feature and may be of sensorineural, conductive, or mixed type. Klippel feil syndrome occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine. The audiological assessment of 44 patients with kfs is reported. Most cases are sporadic, although autosomal dominant and autosomal recessive cases are recognized. Klippelfeil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Klippelfeil syndrome accompanied by partial cleft of the cervical. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Klippel feil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Klippelfeil syndrome nord national organization for rare. Patients with klippelfeil syndrome usually present with the disease during. In nerys case the klippelfeil syndrome was most likely associated with an intramedullary tumor. Klippel feil syndrome kfs is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. Ranges from the fusion of only the bodies congenital block vertebrae to fusion of the entire vertebrae including posterior.
This syndrome is thought to occur very early in development of the fetus due to cervical. Klippelfeil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. Klippelfeil syndrome an overview sciencedirect topics. Klippelfeil syndrome presents with an abnormal fusion of 2 or more bones in the cervical spine.
Anaesthetic considerations in klippelfeil syndrome anaesthesia for the repair of a large occipito cervical encephalomyelocele in a neonate with kippel feil syn drome is described. Klippel feil syndrome kfs is characterized by the congenital fusion of cervical vertebrae, however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Klippelfeil syndrome is a heterogeneously inherited condition that occurs in about 1 in 40,000 newborns. Some cases are due to autosomal dominant or autosomal recessive inheritance. Klippel feil syndrome pictures, symptoms, treatment, causes what is klippel feil syndrome. Klippelfeil syndrome was first described by maurice klippel and andre feil in 1912 in patient with congenital fusion of cervical vertebrae. Klippel feil syndrome kfs, also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck cervical vertebrae 578 it results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. It is commonly associated with scoliosis and sprengel deformity. Klippelfeil syndrome and associated hearing loss jama. Numerous associated abnormalities of other organ systems may be present.
If a surgeon believes that an operation is indicated, it is incumbent upon him or her to make certain that none of the conditions that could cause morbidity or mortality are present. Klippel feil syndrome 7 references 1 fernandes t, costa c. Klippel feil syndrome is a very rare medical disorder that presents with a triad of short webbed neck, limited range of motion of the cervical spine and a low hair line. Klippel feil syndrome is a disorder of the bone that has a characteristic of abnormal fusion of the cervical vertebrae or the spinal bones that is located in the neck region. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and fusions in the thoracic spine causing scoliosis andor kyphosis. Sprengel deformity sd has been readily associated with kfs, and both anomalies share many developmental and embryologic steps. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. Klippelfeil syndrome and sprengel deformity combined with. Klippel feil syndrome kfs is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement.
Klippel feil syndrome kfs is a heterogeneous entity that includes a large vascular variability. Anaesthetic management of a patient with klippelfeil. Lipoma of the spinal cord associated with klippelfeil syndrome in. Klippelfeil syndrome accompanied by partial cleft of the cervical spine. In 1912, klippel and feil 1 first reported on a patient with a short neck, a low posterior hairline, and severe restriction of neck movements due to complete fusion of the cervical spine. Journal of the canadian dental association november 2004, vol. The fusion of the cervical spines, a short neck, low posterior hair line and sprengels. Klippel feil syndrome with other associated anomalies in a medieval portuguese skeleton th15th century. The disorder may be isolated but it can also present in association with numerous other syndromes. Klippelfeil syndrome kfs is a rare congenital abnormality characterized by a short neck, a low posterior hairline, and limited head movement. Exact evaluation of supraaortic vessels before orthopedic correction has, therefore, been strongly recommended.
Klippelfeil syndrome kfs is a rare genetic bone disorder where two vertebrae in the neck are fused together from birth. Occasionally, patients with kfs may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis. Klippelfeil syndrome kfs is a congenital malformation of the cervical vertebrae, with limited treatment options. Klippelfeil syndrome childrens hospital of philadelphia. Klippel feil syndrome kfs is defined as a short neck with decreased movement and low posterior hairline. Today, wed like to look at this rare disorder in detail read on to find out what klippel feil syndrome is and how our physiotherapists can help those who have it. The klippel feil syndrome is a hereditary autosomal dominant disease with reduced penetrance and variable expression, its incidence is unknown due to rarity and that most patients are asymptomatic. Klippel feil syndrome is a clinical triad consisting of short neck, decreased mobility of head movement, and low occipital hairline. Pdf short neck and fusion of cervical vertebrae are observed in several genetic conditions and welldefined syndromes. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Occasionally, patients with kfs may also show signs of deafness, intellectual disability, cardiac malformation, palpebral ptosis, facial nerve paralysis, cleft palate, and scoliosis. Discussion klippel feil syndrome is an inherited autosomal dominant condition. Klippelfeil syndrome kfs is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column vertebrae.
Because klippelfeil syndrome is associated with a constellation of possible abnormalities, no set of definite contraindications for surgery exists. Brokinkel b, wiebe k, hesselmann v, filler tj, ewelt c, mullerhofstede c, stummer w, and klingenhofer m. A classic triad is often associated with klippelfeil, consisting of cervical fusion, short neck, and a low hairline. Coexistence of klippel feil syndrome with sprengel deformity and omovertebral bone is a rare complex bone abnormality with unknown incidence and etiology.
Klippelfeil syndrome is a rare disorder characterized by the congenital fusion of two or more cervical neck vertebrae. Prevalence and etiologic basis of the cervical deformity are. Klippel trenaunay syndrome kts is a complex congenital disorder that historically has been defined as the triad of capillary malformation, venous malformation, and limb overgrowth. Case report abstract in 1912 klippel and feil described this malady. Kts is the prototype of complex overgrowth disorder associated with vascular anomalies and is the. Multiple major and minor anomalies associated with klippelfeil.
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