Congenital Heart Disease in Children with Klippel – Feil Syndrome Presentation of Four Cases and a Review of the Curent Literature

Hana Bejiqi


Introduction: First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome (synonyms: cervical vertebra fusion syndrome, Klippel-Feil deformity, Klippel-Feil sequence disorder) is a bone disorder characterised 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 Aim of presentation Here, we report four cases in young Kosovars with KFS and heart abnormalities, clinical presentation, diagnosis, management, and outcomes of selected conditions in resources-limited settings. Methods We analysed retrospectively medical reports of four children at different age with congenital disease and clinical and lab signs of Klippel-Feil syndrome.

Keywords: Klippel-Feil syndrome, short neck, low hairline, congenital heart

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