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]

• Goiter

  […] disorder characterized by congenital profound bilateral sensorineural hearing loss and a long QT interval with arrhythmia (torsade de pointes)25,26 Pendred syndrome (OMIM#274600) is an autosomal recessive disorder characterized by congenital hearing loss, goiter [nature.com]

• Regurgitation

  By continuous Doppler waves and color Doppler trivial tricuspid regurgitation and hyper dynamic flow through the pulmonary, artery was noted. Family history for consanguinity and congenital heart disease is denied. [heighpubs.org]

• Cyanosis

  Case 5 A 5-day-old male infant, with initials GS, from the fourth and normal controlled pregnancy, weighing 3520g, from both healthy parents, was transferred from regional hospital at our centre as a reason of central cyanosis and important heart murmur [heighpubs.org]

• Fracture

  True oblique axis fracture associated with congenital anomalies of the upper cervical spine: case report of an unusual fracture pattern. Surg Neurol Int 2017;8:7. PMID 28217386 136 Rouvreau P, Glorion C, Langlais J, Noury H, Pouliquen JC. [medlink.com]

  Osteogenesis imperfecta type 1 (OMIM#166200) is an autosomal dominant inheritance disorder characterized by fractures with minimal or no trauma, blue sclera, hearing loss and otosclerosis10. [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]

• 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]

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]