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

Ramush Bejiqi,Ragip Retkoceri,Hana Bejiqi,Naim Zeka

doi:10.3889/oamjms.2015.022

Ramush Bejiqi, Ragip Retkoceri + Show 2 more

Open Access

https://doi.org/10.3889/oamjms.2015.022

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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.

Highlights

First time described in 1912, from Maurice Klippel and Andre Feil independently, Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining of two or more spinal bones in the neck, which is present from birth
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance
During routine examination a short neck, low motion in the cervical spine and a low hairline was hairline at the back of the head and restricted mobility noted and suspicion for KFS awakened

Summary

Case Report

Despite being ventilated on 100 % oxygen, pulse oximetry could not be raised above 80 %. Physical examination showed a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. During routine examination a short neck, low motion in the cervical spine and a low hairline was hairline at the back of the head and restricted mobility noted and suspicion for KFS awakened. Cross-sectional echocardiography demonstrated: normal systemic and pulmonary vein connection, big hole, diameter 12 mm, in the middle part of interatrial septum with nonrestrictive left to right flow. The absence of cardiac services in Kosovo, child was sent image shows an elevated right shoulder due to a Sprengel in the Santa Rosa Children’s Hospital (USA) and anomaly, a short, webbed neck, and a low hairline. Transthoracic echocardiographic examination, using Acuson Sequoia 256 machine, showed usual arrangement of the atrial appendages and thoraco-abdominal organs, with concordant atrioventricular and ventriculo-arterial connections. There is a strong association with congenital abnormalities of the genitourinary tract (30 – 40 %), including double collecting systems, renal aplasia and horseshoe kidney [6, 7]

Discussion

Findings

Family autosomal recessive