[…] hypospadias or splayed labia majora, mental retardation, and congenital heart defects no present in our patient. [ispub.com]

Medical and/or surgical treatments are dependent upon the congenital anomalies present in the syndrome. [biomed.uninet.edu]

In KF1, C1 fusion is most common, and these children often present with severe associated anomalies, including a shortened or nonexistent neck. [jamanetwork.com]

We present a case of a primigravida scheduled for an elective Caesarean section successfully managed with a general anaesthetic technique using awake fibreoptic technique for endotracheal intubation. [bjmp.org]

Klippel-Feil syndrome presenting with bilateral thoracic outlet syndrome. Spine 2004;29(9):E189-92. PMID 15105685 92 Kotil K, Yavasca P, Bilge T. [medlink.com]

• Pain

  Therapy for KFS can include a variety of conservative measures including the use of cervical collars, braces, traction, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications (analgesics). [rarediseases.org]

  Effects of cervical deep muscle strengthening in a neck pain: a patient with klippel-feil syndrome. J Phys Ther Sci 2014;26(12):1999-2001. PMID 25540517 13 Balachandran G. [medlink.com]

  KFS referred to an otolaryngology department for otologic and audiologic evaluation, with 65% affected by some form of hearing loss and 60% having associated anomalies of the external, middle, and/or inner ear.12 Congenital cervical fusion can cause pain [jamanetwork.com]

• Atrial Septal Defect

  Klippel-Feil syndrome associated with atrial septal defect. Med Arh 2013;67(2):141-2. PMID 24341064 18 Bettegowda C, Shajari M, Suk I, Simmons OP, Gokaslan ZL, Wolinsky JP. [medlink.com]

• Surgical Procedure

  The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

• Falling

  Within the affected kidneys, the angiotensin II-dependent renal vasoconstriction attenuates the fall in renal blood flow and also affects the glomerular filtration rate by modulating vascular tone of the afferent and efferent renal arterioles. [biomed.uninet.edu]

• Arthritis

  It often remains unrecognised since the neck may appear normal and the patients are asymptomatic until later in life, when they present due to their increased susceptibility to cervical osteo-arthritis. [bjmp.org]

  […] email protected] Website: https://kfsfreedom.wordpress.com/ Let Them Hear Foundation 1900 University Avenue, Suite 101 East Palo Alto, CA 94303 Phone: (650) 462-3174 Email: [email protected] Website: http://www.letthemhear.org NIH/National Institute of Arthritis [rarediseases.org]

  Stickler syndrome (OMIM#108300, #604841, #614134 and #614284) is an inherited connective tissue disorder associated with myopia, retinal detachment, cleft palate, midfacial hypoplasia, arthritis and hearing impairment12,13,14,15,16,17. [nature.com]

• Torticollis

  C2 hypermobility and instability, cervical dysraphism, diastematomyelia, intracranial tumors, spinal cord abnormalities (Syringomyelia 15%), traumatic paraplegia, deformity of Sprengel (36%), omovertebral bone, ear abnormalities, hearing loss (38%), torticollis [ispub.com]

  There may also be abnormal twisting of the neck (torticollis), causing the head to be rotated into an abnormal position. [rarediseases.org]

• Neck Pain

  Effects of cervical deep muscle strengthening in a neck pain: a patient with klippel-feil syndrome. J Phys Ther Sci 2014;26(12):1999-2001. PMID 25540517 13 Balachandran G. [medlink.com]

• Quadriplegia

  Elster A: Quadriplegia after minor trauma in the Klippel-Feil syndrome. A case report and review of the literature. J Bone Joint Surg Am 64:1473–1774, 1984.Google Scholar 9. [link.springer.com]

  Congenital deformation of the posterior arch of the atlas: subluxation of the atlanto-axial joint with temporary quadriplegia. SAGE Open Med Case Rep 2019;7:2050313X18823387. PMID 30719304 15 Barbosa V, Maganzini AL, Nieberg LG. [medlink.com]

• Hyperreflexia

  In addition, some individuals may develop increased reflex reactions (hyperreflexia); weakness or paralysis of one side of the body (hemiplegia) or of the legs and the lower part of the body (paraplegia); or impairment of certain nerves that emerge from [rarediseases.org]

• Tingling

  Such complications may include pain; abnormal sensations (paresthesia), such as tingling, prickling, or burning; or involuntary muscle movements accompanying certain voluntary actions (synkinesia or mirror movements). [rarediseases.org]

• Urinary Incontinence

  Associated findings may include the presence of a tuft of hair or dimple over the underlying abnormality and, in some cases, leg weakness, an inability to control urination (urinary incontinence), or other findings. [rarediseases.org]

Treatment options The optimal treatment for arterial hypertension due RAS is still a controversial problem. [biomed.uninet.edu]

Medical and/or surgical treatments are dependent upon the congenital anomalies present in the syndrome. Undiagnosed hidden anomalies are close related with poor prognosis. [ispub.com]

Standard Therapies Treatment The treatment of KFS is directed toward the specific symptoms and associated physical findings that are apparent in each individual. [rarediseases.org]

Diagnosis, prevention and treatment of hereditary sensorineural hearing loss. The Laryngoscope, Vol. 87, Issue. S7, p. 1. CrossRef Google Scholar Richards, S. H. and Gibbin, Kevin P. 1977. [cambridge.org]

The Klippel-Feil syndrome: etiology and treatment of neurologic signs. J Nerv Ment Dis 1953;117:479-91. PMID 13109509 114 Moses JT, Williams DM, Rubery PT, Mesfin A. [medlink.com]

Undiagnosed hidden anomalies are close related with poor prognosis. We report a case with some of the before-mentioned anomalies plus renal artery stenosis (RAS). [ispub.com]

Undiagnosed hidden anomalies are close related with poor prognosis, in other words: some hidden anomalies can be fatal.10 From our knowledge in our patient there is a novel combination of problems no reported to the medical literature previously. [biomed.uninet.edu]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

KTWS is an uncommon disease (around 310 cases have been published) due to a congenital malformation of the deep venous system with agenesis, hypoplasia or segmental atresia, the etiology is not clear however seems to be related with diffuse mesodermal [ispub.com]

The multiple otological diagnoses listed in Table 1 indicate a variety of potential conductive and mixed hearing loss etiologies. Among the nonotologic diagnoses, dysphagia was most common diagnosis, affecting 37 patients (39%). [jamanetwork.com]

KTWS is an uncommon disease (only 310 cases have been published) due to a congenital malformation of the deep venous system with agenesis, hypoplasia or segmental atresia, the etiology is not clear however seems to be related with diffuse mesodermal abnormalities [biomed.uninet.edu]

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg syndrome. Sci. Rep. 6, 35498 (2016). ADS CAS Article Google Scholar 49. Tassabehji, M. et al. [nature.com]

The Klippel-Feil syndrome: etiology and treatment of neurologic signs. J Nerv Ment Dis 1953;117:479-91. PMID 13109509 114 Moses JT, Williams DM, Rubery PT, Mesfin A. [medlink.com]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976). 2006;31(21):E798-E804.PubMedGoogle ScholarCrossref 3. Erskine CA. [jamanetwork.com]

Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine 2006b;31(21):E798-804. [medlink.com]

Provocative captopril tests should be applied only to hypertensive patients thought to have a moderate suspicion of RVHT based on the usual clinical clues.16 Pathophysiology of RAS. [biomed.uninet.edu]

[…] controlling developmental patterning of skeletal joints and associated with numerous, distant cis-acting regulatory elements may be involved in bone formation plays a role in formation of a diverse subset of skeletal joints plays an inhibitory role to prevent [genatlas.medecine.univ-paris5.fr]

Diagnosis, prevention and treatment of hereditary sensorineural hearing loss. The Laryngoscope, Vol. 87, Issue. S7, p. 1. CrossRef Google Scholar Richards, S. H. and Gibbin, Kevin P. 1977. [cambridge.org]

ACE inhibition interrupts the renin-angiotensin-aldosterone system pathway by preventing the conversion of the decapeptide angiotensin I to the octapeptide angiotensin II such that the vasoconstrictor and aldosterone-stimulating effects of angiotensin [biomed.uninet.edu]