Genitourinary anomalies associated with klippel feil syndrome by william b. Scribd is the worlds largest social reading and publishing site. Klippelfeil syndrome is associated with sprengel deformity congenital high scapula, scoliosis, urinary tract anomalies, and congenital heart disease. Statistiche sindrome di klippelfeil mappa sindrome di. We discuss the clinical presentation, radiographic findings, and various treatment options for cervical spine abnormalities in klippelfeil syndrome. Klippelfeil 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. You can create as many pages like this one or subpages as you like and manage all of your. The clinical manifestations of klippel feil syndrome sequence are a short neck, a low posterior hairline, and limitation of head and neck movements 1.
Genitourinary anomalies associated with klippelfeil syndrome by william b. Klippelfeil syndrome kfs is a rare disorder characterized by the congenital fusion of cervical vertebrae and affects anywhere from 1 in 40,000 to 50,000 live births 4, 20. A case of klippelfeil syndrome causing a mass appearance in. Klippel feil syndrome is a complex disorder that consists of congenital fusions of the cervical vertebrae. Fusion of c2, c3 and c4 vertebral bodies, suggestive of type ii klippel feil syndrome full spinal imaging is required to confirm the type in addition to ap diameter at the level of the affected discovertebral joint is smaller than the diameter at the superior and inferior limits of the vertebrae adjacent to the uninvolved discs, which is called the waspwaist sign.
Pdf management of klippelfeil syndrome combined with. Klippelfeil sendromu klippelfeil syndrome introduction klippelfeil syndrome kfs is a rare congenital malformation characterized with the triad of short neck, low hair line and restricted neck movements due to insufficiency of segmentation of two or more cervical vertebrae 1. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. The clinical manifestations of klippelfeil syndrome sequence are a short neck, a low posterior hairline, and limitation of head and neck movements 1. Klippel and feil 1912 first described the disorder in a 46yearold french man who had a short immobile neck with massive fusion of cervical and upper thoracic vertebrae. Physical therapy management manual stretching is the most common form. The authors adopted an integrated approach merging together hemodynamic and. Rotational loss is usually more pronounced than the loss of flexion and extension. Get a printable copy pdf file of the complete article 1. Caused by mutation in the growthdifferentiation factor 6 gene gdf6, 601147. Klippelfeil syndrome article about klippelfeil syndrome. Genitourinary anomalies associated with klippelfeil syndrome. Mitar vranic has cared for patients at arizonas western vascular institute. Klippel feil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae.
It occurs in one of every 42,000 births, and 60% of cases are female. Klippel feil syndrome diagnosis and treatment usually, klippel feil syndrome is diagnosed based on the classic triad of symptoms but sometimes it remains undiagnosed until later in life. Klippel trenaunay syndrome was initially described in 1900 as a triad of cutaneous capillary hemangiomas, bony and soft tissue hypertrophy, and venous dilations. Klippelfeil syndrome kfs is a congenital anomaly characterized by a. Mitar vranic treats vascular conditions ranging from venous insufficiency to klippeltrenaunay syndrome. Fusion of c2, c3 and c4 vertebral bodies, suggestive of type ii klippelfeil syndrome full spinal imaging is required to confirm the type in addition to ap diameter at the level of the affected discovertebral joint is smaller than the diameter at the superior and inferior limits of the vertebrae adjacent to the uninvolved discs, which is called the waspwaist sign. Thank you so much for the courses and all you do for our profession and our patients. Autosomico dominante o autosomico recesivo o no aplicable. This syndrome results from failure of the normal segmentation of the cervical somites during the 3 rd to 8 th weeks of gestation. A case of klippelfeil syndrome causing a mass appearance. The klippelfeil syndrome is a congenital anatomical defect in the neck, which. Klippelfeilsyndrom dystrophia brevicollis congenita halswirbelsynostose, kongenitale.
Pdf on oct 1, 2008, shuyi chen and others published cervical myelopathy in klippelfeil. Since this question cannot be answered objectively and a serious doctor would never claim to be the best, affected people can only rely. The syndrome is difficult to diagnose, as it occurs in. Sindrome di klippel trenaunay have 74 posts, 14 topics, 68 members, 5,937 total visits, 0 monthly visits, 19,821. Sep 18, 2015 the authors present a case of cervical myelopathy and radiculopathy in the setting of multiple klippelfeil syndrome abnormalities treated surgically with a singlelevel c3c4 anterior cervical discectomy and fusion. Three major features result from this vertebral fusion. It is usually associated with complex vascular malformations such as cutaneous hemangiomas and varicosities in extremities. Klippeltreanunay syndrome kts is a rare congenital overgrowth disorder associated with vascular anomalies first described by paul treanunay in 1900. Klippelfeil syndrome find specialists and consultants.
About klippeltrenaunay syndrome linkedin slideshare. Klippelfeil syndrome kfs is a rare skeletal disorder primarily characterized by an abnormal fusion of two or more bones of the spinal column vertebrae within the neck cervical vertebrae. Maurice klippel y andra feil describieron por primera vez en 1912 este padecimiento. English translation in bick, classics of orthopaedics, 511516.
All doctors and clinics listed here have been checked by us for their outstanding specialization in the area of klippel feil syndrome. Ofthirtynine patients with klippelfeil syndrome, twentyfive 64 per cent had significant genitourinarytract anomalies demonstrated byin. In this segmentation defect there is fusion of two or more cervical vertebrae. I preceptor of the inpatient pediatric unit of the university hospital of universidade luterana do brasil ulbra canoas rs, brazil ii preceptor of the inpatient pediatric unit of the university. Kts is the prototype of complex overgrowth disorder associated with vascular anomalies and is the. Kfs is a heterogeneous condition presenting with an array of skeletalextraskeletal manifestations 1, 49 and is best known for the classical syndromic triad, found in approximately 50 % of patients. Information about the field of klippelfeil syndrome. Radiological examination consisting of xrays, mri and ct scan will reveal abnormal and defective vertebrae and associated tissues. Klippelfeil syndrome with sprengel deformity radiology.
Pixars computeranimated film the incredibles 2004 presents a case in point in one buddy pine, a decidedly nonsuperpowered adolescent with a talent for invention and a stalkerlike obsession with the ultrastrong superhero known as mr. Someone in need of a doctor prefers the best medical care as possible. This is an example of a wordpress page, you could edit this to put information about yourself or your site so readers know where you are coming from. The proband was a 24yearold woman with unilateral sensorineural.
Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. About klippel trenaunay syndrome by mitar vranic 2. In sprengel deformity, the scapula is bound to the cervical spine by fibrous tissue, cartilage or an omovertebral bone, which restrict abduction of the shoulder. Klippel feil syndrome kfs is a rare skeletal disorder primarily characterized by an abnormal fusion of two or more bones of the spinal column vertebrae within the neck cervical vertebrae. Klippelfeil syndrome is a bone disorder characterized by the abnormal joining fusion of two or more spinal bones in the neck cervical vertebrae. When innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Journal of the canadian dental association november 2004, vol. Links to pubmed are also available for selected references. The disorder usually affects one body segment and has several clinical manifestations. Management of klippelfeil syndrome combined with turner syndrome. Ofthirtynine patients with klippel feil syndrome, twentyfive 64 per cent had significant genitourinarytract anomalies demonstrated byin. Full text full text is available as a scanned copy of the original print version.847 657 1125 1522 526 1651 1516 72 1018 26 1177 269 1241 661 825 817 245 316 899 869 961 1503 911 1258 503 837 677 945 873 1529 178 1241 252 112 788 479 579 1251 598 1280 1179 515