Ieva Janulaitytė, Augustė Vadišiūtė, Danielius Serapinas
Abstract
Disability includes health problems and personal activityrestriction affects body functions or structures violations. Level ofdisability is a complex assessment of health status and self-loss indaily activities. Degree of disability is determined according to thelevel of disability determination criteria and procedure description.Basic working capacity assessed by reference to person‘s healthstatus. It is important the early detection of level of disability thatwould help in time.Discusses the clinical case of a patient who came to LUHSHospital Kaunas Clinics for suspected genetic syndrome. Patientsphenotypic changes – chest deflection, spinal hemangioma andvertebral scoliosis. As well as recurrent respiratory tract infectionswith obstructive syndrome and bronchiolitis. Clinical featurescharacteristic of Klippel-Feil syndrome, differentiated withoccult spinal dysraphism. Provided data about disease symptoms,pathogenesis, diagnosis and the possible clinical manifestations.This case report contains a literature review of other reported casesand case analysis.
Keyword(s): disability, Klippel-Feil, genetic syndrome
DOI: 10.5200/sm-hs.2015.008
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