Abstract

URDANETA CARRUYO, Eliéxer et al. Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma. Arch. argent. pediatr. [online]. 2016, vol.114, n.6, pp.e398-e402. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2016.e398.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

Keywords : Klippel Feil syndrome; Vertebral fusion; Tracheoesophageal fistula; Thumb abnormality; Angiolipoma.

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