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ID Design 2012/DOOEL Skopje
Open Access Macedonian Journal of Medical Sciences.

http://dx.doi.org/10.3889/oamjms.2015.022

Case Report

 

 

Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature


 

Ramush Bejiqi1*, Ragip Retkoceri1, Hana Bejiqi2, Naim Zeka1

1Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo; 2Main Center of Family Medicine, Prishtina, Republic of Kosovo


 

Abstract

 

 

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 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 have all three classic features of this condition.
Since first classification from Feil in three categories (I – III) other classification systems have been advocated to describe the anomalies, predict the potential problems, and guide treatment decisions. Patients with Klippel-Feil syndrome usually present with the disease during childhood, but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis.
 
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Citation: Bejiqi R, Retkoceri R, Bejiqi H, Zeka N. Klippel – Feil Syndrome Associated with Congential Heart Disease Presentaion of Cases and a Review of the Curent Literature. OA Maced J Med Sci. http://dx.doi.org/10.3889/oamjms.2015.022
Key words: Klippel-Feil syndrome; short neck; low hairline; congenital heart disease.
*Correspondence: Ramush Bejiqi. Division of Cardiology, Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Republic of Kosovo. Tel: +37744120129. E-mail: rbejiqi@hotmail.com
Received: 14-Jan-2015; Revised: 03-Feb-2015; Accepted: 04-Feb-2015; Online first: 11-Feb-2015
Copyright: 2015 Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi, Naim Zeka. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Competing Interests: The authors have declared that no competing interests exist.
 

 

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Publisher: ID Design 2012/DOOEL Skopje, Republic of Macedonia.

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