Multiple Major and Minor Anomalies Associated With Klippel-Feil Syndrome: A Case Report

Nada VUJASINOVIC STUPAR1, Slavica PAVLOV-DOLIJANOVIC1, Nur HATIB2, Bojan BANKO3, Milan DJUKIC4, Natasa NIKOLIC JAKOBA5

1School of Medicine, University of Belgrade, Institute of Rheumatology, Belgrade, Serbia
2Department of Maxillofacial Surgery, School of Dental Medicine, University of Belgrade, Belgrade, Serbia
3Clinical Center of Serbia, Center for Radiology and MRI, Belgrade, Serbia
4School of Medicine, University of Belgrade, University Childrens Hospital, Belgrade, Serbia
5Department of Periodontology and Oral Medicine, School of Dental Medicine, University of Belgrade, Belgrade, Serbia

Keywords: Anomalies, Klippel-Feil syndrome, neurological symptoms, trauma

Abstract

Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae. In this article, we report a 55-year-old male patient with one-year history of neck pain, headaches, and one episode of syncope after a severe trauma. X-rays and magnetic resonance imaging of cervical spine revealed fused vertebral bodies of C2-C5. The major anomalies associated with Klippel-Feil syndrome (small stature, thoracic kyphoscoliosis, lumbar scoliosis, restricted opening mouth, and bilateral sensorineural hearing loss) as well as multiple minor anomalies (mild face asymmetry, high arched palate, rhinoscoliosis, high nasal bridge, inclined septi nasi, and thin upper lip) were detected. This is a rare case describing the anomalies of the nose in Klippel-Feil syndrome patients. Our patient had no central cord impairment following a severe trauma.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.