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Topic: Klippel Feil syndrome


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  Klippel Feil syndrome - Wikipedia, the free encyclopedia
Klippel Feil Syndrome (KFS) is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.
It is caused by a failure in the normal segmentation of the cervical vertebrae during the early weeks of fetal development.
The 18th Dynasty Egyptian pharaoh Tutankhamun is believed to have suffered from Klippel Feil syndrome.
en.wikipedia.org /wiki/Klippel_Feil_syndrome   (212 words)

  
 eMedicine - Klippel-Feil Syndrome : Article by J Andy Sullivan, MD   (Site not responding. Last check: 2007-10-18)
An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome.
This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.
Ohtani I, Dubois CN: Aural abnormalities in Klippel-Feil syndrome.
www.emedicine.com /orthoped/topic408.htm   (3101 words)

  
 Images in Clinical Practice
The child was diagnosed as Klippel Feil syndrome with severe birth asphyxia and was treated symptomatically but expired after 10 hours of birth.
Klippel Feil syndrome is characterized by synostosis (fusion of cervical vertebrae), brevicollis (short/absent neck) and low posterior hairline with many other associated malformations.
Klippel Feil syndrome is a rare congenital malformation occuring predominantly in females.
www.indianpediatrics.net /image.htm   (531 words)

  
 AANS.org | Education and Meetings | AANS Scientific Journals | Neurosurgical Focus
The dysmorphic cervical spine in Klippel--Feil syndrome: interpretations from developmental biology
The authors conducted a study to identify radiological patterns of Klippel--Feil syndrome (KFS), and they present a new interpretation of the origin of these patterns based on recent advances in understanding of embryonic development of the spine and its molecular genetic control.
The authors of recent molecular studies used to investigate transgenic mice and naturally occurring mutant mouse strains to elucidate the genetic specification of the mammalian body plan, including the axial skeleton, have identified a number of developmental control genes and their roles in segmentation.
www.aans.org /education/journal/neurosurgical/june99/6-6-1.asp   (4157 words)

  
 BioMed Central | Full text | Klippel-Feil syndrome - the risk of cervical spinal cord injury: A case report
Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3–8 of gestation.
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.
As persons with Klippel-Feil syndrome may be at increased risk of sustaining a neurologic deficit in the settting of spinal stenosis after minor trauma, they should be provided appropriate guidance to alter their behavior if they experience an episode of neurologic compromise.
www.biomedcentral.com /1471-2296/3/6   (1913 words)

  
 American Family Physician: Klippel-Feil syndrome - Radiographic Highlights
Klippel-Feil syndrome consists of short neck, low posterior hairline and severe restriction of motion of the neck due to complete fusion of cervical vertebrate.
The frequency of Klippel-Feil syndrome is estimated to be approximately one in 40,000, but it is probably far more common because less severe fusions remain undetected in many patients.
Common musculoskeletal anomalies that coompany Klippel-Feil syndrome include scoliosis (60 percent of cases), as well as Sprengel's deformity (elevation of the scapula), in as many as one-third of cases.
www.findarticles.com /p/articles/mi_m3225/is_n2_v45/ai_12019317   (983 words)

  
 Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.
Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.These identical twins were both male with no chromosome defect.
Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine.
One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis.
www.pdg.cnb.uam.es /UniPub/iHOP/gp/10099012.html   (190 words)

  
 Introduction: Klippel Feil Syndrome - WrongDiagnosis.com
Klippel Feil Syndrome information: Klippel-Feil syndrome is a rare disorder defined as the congenital fusion of any 2 of the 7 cervical (neck) vertebrae.
Researching symptoms of Klippel Feil Syndrome: Further information about the symptoms of Klippel Feil Syndrome is available including a list of symptoms of Klippel Feil Syndrome, or alternatively return to research other symptoms in the symptom center.
Statistics and Klippel Feil Syndrome: Various sources and calculations are available in statistics about Klippel Feil Syndrome, prevalence and incidence statistics for Klippel Feil Syndrome, and you can also research other medical statistics in our statistics center.
www.wrongdiagnosis.com /k/klippel_feil_syndrome/intro.htm   (264 words)

  
 Audiological abnormalities in the Klippel-Feil syndrome -- McGaughran et al. 79 (4): 352 -- Archives of Disease in ...
Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline.
Klippel M, Feil A. Un cas des vertebres cervicales avec cage thoracique remontent justu'a la base du crane.
Feil A. L'absence et la diminution des vertebres cervicales (etude clinique et pathologique): le syndrome de reduction numerique cervicale.
adc.bmjjournals.com /cgi/content/full/79/4/352   (1985 words)

  
 Klippel-Feil Syndrome
Klippel-Feil syndrome (KFS) is a rare skeletal condition in which there is abnormal union or fusion (congenital synostosis) of two or more bones of the spinal column (vertebrae) within the neck.
Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that may be detected during infancy.
Duane syndrome is primarily characterized by limitation or absence of certain horizontal eye movements; retraction or "drawing back" of the eyeball into the eye cavity (orbit) upon looking inward; and, in some cases, abnormal deviation of one eye in relation to the other (strabismus).
hw.healthdialog.com /kbase/nord/nord659.htm   (2596 words)

  
 Information About Klippel-Feil Syndrome Web Sites   (Site not responding. Last check: 2007-10-18)
Klippel-Feil Syndrome Circle of Friends - Klippel-Feil syndrome is a rare, congenital disorder that affects the spine.
Klippel Feil Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Klippel-Feil Syndrome Support - A new meeting place for patient and families who live with KFS to support each other and learn from each other about this rare birth defect.
www.worldcrawl.com /Health/ConditionsandDiseases/MusculoskeletalDisorders/CongenitalAnomalies/Klippel-FeilSyndrome   (151 words)

  
 The Orthodontic CYBERjournal: Klippel-Feil Syndrome
Klippel-Feil Syndrome is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae.
Klippel-Feil Syndrome presents a wide spectrum of signs and symptoms namely asymmetry of the face, temporomandibular dysfunction, restrictive mouth opening, palatal clefts including submucosal types and oligodontia which are of interest to the dental surgeon.
The cervical vertebrae as a factor in the etiology of cleft palate.
www.oc-j.com /sept04/Klippel_Fell_Syndrome.htm   (1479 words)

  
 Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. Sharma MS, Sharma BS, Yadav A, ...
A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported.
[1] The Klippel-Feil syndrome has been reported to be associated with cardiac and central nervous system anomalies.
Recently, an elegant hypothesis relates to the reduced expression of the Pax genes in sclerotomes during the chondrification of the vertebral centra, producing abnormal segmentation and cervical fusion.
www.neurologyindia.com /article.asp?issn=0028-3886;year=2001;volume=49;issue=2;spage=210;epage=2;aulast=Sharma   (1224 words)

  
 Article : Pelvic Pancake Kidney in Klippel Feil Syndrome ; Author : KS Kumar ; Co-Author(s) : S Singh, A Govindan, K ...   (Site not responding. Last check: 2007-10-18)
Klippel Feil Syndrome consists of complex viscero skeletal anomalies which include skeletal manifestations like block vertebra [1], spina bifida, hypoplastic rib and visceral anomalies involving the urogenital tract and the heart.
The common renal anomalies reported in Klippel Feil Syndrome are unilateral renal agenesis, crossed renal ectopia, duplication of the collecting system or very rarely bilateral absence of kidneys which when present is incompatible with life [4].
The high incidence of renal anomalies in Klippel Feil Syndrome, especially absence of one kidney and congenital heart disease make the assessment of the genitourinary system and the cardiovascular system mandatory in any case of Klippel Feil Syndrome.
www.ijri.org /articles/archives/2002-12-3/letter_448.htm   (853 words)

  
 Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural ...
Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube.
Klippel-Feil syndrome, iniencephalus, anencephalus, hindbrain hernia and mirror movements: overdistention of the neural tube.The only symptom may be mirror movement (MM).
Bony anomalies encountered in the 'no neck' form of Klippel-Feil syndrome (KFS) are a wide, short, fused, bifid, retroflexed spinal canal; craniolacunia, cranium bifidum, and acrania.
www.pdg.cnb.uam.es /UniPub/iHOP/gp/3185605.html   (129 words)

  
 Klippel Feil syndrome   (Site not responding. Last check: 2007-10-18)
This article is simply a forum to discuss Klippel Feil syndrome in mainly children.
In her case the first 3 vertebrae at the top of her spine are fused or missing, resulting in a perpetually stiff upper back and neck movement.
Also, there is a possible question of the role of Agent Orange as a possible cause for this as her natural father, a soldier in Vietnam, may have been exposed.
neuro-www.mgh.harvard.edu /neurowebforum/GeneralFeedbackArticles/KlippelFeilsyndrome.htmlA   (264 words)

  
 Klippel Feil syndrome - Encyclopedia, History, Geography and Biography
Klippel Feil syndrome - Encyclopedia, History, Geography and Biography
This page was last modified 18:42, 19 May 2005.
This encyclopedia, history, geography and biography article about Klippel Feil syndrome contains research on
www.arikah.net /encyclopedia/Klippel_Feil_syndrome   (234 words)

  
 Klippel Feil Syndrome - Wheeless' Textbook of Orthopaedics
Klippel Feil Syndrome - Wheeless' Textbook of Orthopaedics
The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis.
Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology.
www.wheelessonline.com /ortho/klippel_feil_syndrome   (116 words)

  
 Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands) -- GONZÁLEZ-REIMERS et al. 60 ...
Klippel-Feil syndrome in the prehispanic population of El Hierro (Canary Islands)
Klippel-Feil syndrome is an uncommon alteration (1:40 000 births), mainly affecting the cervical spine.
Klippel- Feil syndrome is a heterogeneous disorder, showing different
www.annrheumdis.com /cgi/content/full/60/2/173a   (591 words)

  
 KLIPPEL-FEIL SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and ...
Klippel-Feil syndrome is a rare disorder caused by failure of the division of the bones in the cervical (neck) section of the spinal column during embryonic development.
Three types of Klippel-Feil syndrome have been described and these depend upon the number of vertebrae joined together and whereabouts in the spine they are joined.
In this condition the Klippel-Feil anomaly is associated with kidney abnormality and underdevelopment of the female reproductive organs, the uterus, fallopian tubes and vagina.
www.cafamily.org.uk /Direct/k20.html   (939 words)

  
 The KFS Connection's Education Page
Klippel-Feil Syndrome describes congenital fusion of at least two of the seven vertebrae in the cervical-spine.
Many people actually have the syndrome but are never diagnosed because their symptoms may be so minor.
Sudden neurologic injury or death after minor trauma is possible in persons with certain high-risk patterns of cervical fusion and spinal motion.
members.aol.com /kfsconxpgs/educate.htm   (531 words)

  
 Klippel-Feil Syndrome - DynoMed.com   (Site not responding. Last check: 2007-10-18)
Often, this condition is seen in children who have other problems such as spina bifida, scoliosis, kidney problems, or deafness.  It is more common in girls than boys.
The exact cause of the syndrome is not known.  In some cases, it appears that heredity plays a role, but in others, this is not the case.
If the doctor suspects Klippel-Feil syndrome, he or she will order x-rays.  The x-rays will show if there are abnormalities in the bones. 
www.dynomed.com /encyclopedia/encyclopedia/pediatric_orthopedics/Klippel-Feil_Syndrome.html   (186 words)

  
 Statistics by Country for Klippel Feil Syndrome - CureResearch.com
About these extrapolations of prevalence and incidence statistics for Klippel Feil Syndrome: These statistics are calculated extrapolations of various prevalence or incidence rates against the populations of a particular country or region.
As such, these extrapolations may be highly inaccurate (especially for developing or third-world countries) and only give a general indication (or even a meaningless indication) as to the actual prevalence or incidence of Klippel Feil Syndrome in that region.
The term 'incidence' of Klippel Feil Syndrome means the annual diagnosis rate, or the number of new cases of Klippel Feil Syndrome diagnosed each year (i.e.
www.cureresearch.com /k/klippel_feil_syndrome/stats-country.htm   (441 words)

  
 Prevalence and Incidence of Klippel Feil Syndrome - CureResearch.com
Prevalence and Incidence of Klippel Feil Syndrome - CureResearch.com
About prevalence and incidence statistics: The term 'prevalence' of Klippel Feil Syndrome usually refers to the estimated population of people who are managing Klippel Feil Syndrome at any given time.
The term 'incidence' of Klippel Feil Syndrome refers to the annual diagnosis rate, or the number of new cases of Klippel Feil Syndrome diagnosed each year.
www.cureresearch.com /k/klippel_feil_syndrome/prevalence.htm   (287 words)

  
 KF2 Class Klippel-Feil Syndrome   (Site not responding. Last check: 2007-10-18)
Klippel-Feil syndrome is characterized by the congenital fusion of any of the seven cervical (C 1-7) vertebrae.
This represents the first familial locus for the syndrome and the affected gene has been named SGM1 to avoid any misunderstanding with KFS classification nomenclature (Clarke et al., 1995).
We are undertaking positional cloning of the SGM1 gene using candidate gene and YAC probes from chromosome 8q.
apollo.uthscsa.edu /Genome/Chr8/SWC8/clarke.html   (240 words)

  
 Arch Neurol -- Abstract: Rubral Lateropulsion Due to Vertebral Artery Dissection in a Patient With Klippel-Feil ...   (Site not responding. Last check: 2007-10-18)
Arch Neurol -- Abstract: Rubral Lateropulsion Due to Vertebral Artery Dissection in a Patient With Klippel-Feil Syndrome, April 2004, Karimi et al.
syndrome usually are attributed to direct compression of neuronal
Klippel-Feil syndrome may be a predisposing factor for vertebral
archneur.ama-assn.org /cgi/content/abstract/61/4/583   (120 words)

  
 Virtual Hospital: Radiology Resident Case of the Week: Sprengel's deformity associated with Klippel Feil syndrome   (Site not responding. Last check: 2007-10-18)
Original Klippel Feil syndrome consists of a triad of signs including; short neck; a low posterior hair line; limitation of movement.
Current definition of the syndrome is congenital fusion of 2 or more cervical vertebrae.
Sprengel's deformity is unilateral or bilateral elevation of scapula and seen in 20-25% of the patients, especially in the cases with high and extensive cervical fusions.
www.janela1.com /vh/docs/v0001131.htm   (147 words)

  
 PBLD: 2000 Kiawah Island Conference
MS is a 33 year old, 5’3” 75kg woman with Klippel-Feil Syndrome, gravida 2, para 1 at 32 weeks gestation.
However, the patient continues to desaturate and is now hypotensive and having frequent multifocal ventricular beats.
Anaesthetic management of caesarean section for a mother with pre-eclampsia, the Klippel-Feil syndrome and congenital hydrocephalus.
www.unc.edu /~rvp/CVDocs/PBLD_KlippelCsection.htm   (431 words)

  
 Klippel-Feil Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.
Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.
The prognosis for most individuals with Klippel-Feil Syndrome is good if the disorder is treated early and appropriately.
accessible.ninds.nih.gov /disorders/klippel_feil/klippel_feil.htm   (390 words)

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