Data of our patients are presented on the table 1. [heighpubs.org]

[…] 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]

Agenesis of lung: presentation of eight new cases and review of literature. Pediatrics. 1968; 42: 175-188 Page DV Stocker JT. Anomalies associated with pulmonary hypoplasia. Am Rev Respir Dis. 1982; 125: 216-221 Nagib MG Maxwell RE Chou SN. [journal.chestnet.org]

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

• Short Stature

  Short stature, mental retardation, and hypoparathyroidism: A new syndrome. Arch Dis Child. 1990; 65: 1113-1117 Scopus (49) PubMed Crossref Google Scholar Wilson B.E. Tawrey S. [amjmedsci.com]

  She and her father, who harbored the same variant, had characteristic clinical features (cleft palate, short stature and short extremities). Their hearing level was severe to profound sensorineural hearing loss. [nature.com]

• Fatigue

  There was no sweating or fatigue during feeding or normal activities. Complete clinical and cardiological examination was obtained. Objective examination of other children is in normal limits. [heighpubs.org]

• Short Neck

  that results in a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in theneck. [semanticscholar.org]

  The image shows an elevated right shoulder due to a Sprengel anomaly, a short, webbed neck, and a low hairline. [heighpubs.org]

  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. [bjmp.org]

  Chapter 202 Accesses Abstract In 1912, Klippel and Feil described a patient with a short neck, a low posterior hairline, and severe restriction of motion of the neck due to complete fusion of the cervical vertebrae. [link.springer.com]

  Some affected individuals may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head (posterior hairline). [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]

A note on the prognosis of pulmonary agenesis and hypoplasia according to the side affected. [journal.chestnet.org]

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]

Etiology The etiology of Klippel-Feil syndrome and its associated conditions is unknown. [heighpubs.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]

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]