Klippel-Feil Syndrome And Congential Heart Disease Presentation Of Cases And A Review Of The Literature

Research Article
Ramush Bejiqi., Ragip Retkoceri., Hana Bejiqi., Naim Zeka., Aferdita Mustafa., Arlinda Maloku and Rinor Bejiqi
DOI: 
http://dx.doi.org/10.24327/ijrsr.2018.0904.2052
Subject: 
science
KeyWords: 
Klippel-Feil syndrome, congenital heart disease short neck, low hairline,
Abstract: 

Introduction: Independently described first time in 1912 from two authors: Maurice Klippel and Andre Feil, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae), which is present from birth. Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome (KFS) have all three classic features of this condition. Aim of presentation Here, we report five cases in young Kosovars with KFS and heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings. Methods Retrospectively we analysed medical reports of five our children, diagnosed at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome.