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Case Report

Med Arch. 2013; 67(2): 141-142


Klippel – Feil Syndrome Associated with Atrial Septal Defect

Ramush Bejiqi, Ragip Retkoceri, Hana Bejiqi, Naim Zeka, Arlinda Maloku, Majlinda Berisha.

Abstract
Introduction: 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. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. Results and discussion: Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger’s series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children’s Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.

Key words: Klippel –Feil syndrome, atrial septal defect, echocardiography.



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