title: [Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma.]
abstract: 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.
authors.affiliation: Unidad de Nefrologia Pediátrica y Metabolismo Mineral del Hospital Universitario de Los Andes, Mérida, Venezuela. grutib.ula@gmail.com.|Grupo Transdisciplinario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Eliéxer
authors.initials: E
authors.lastname: Urdaneta Carruyo
authors.affiliation: Departamento de Radiología e Imágenes, Hospital Universitario de Los Andes, Mérida, Venezuela.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Rojas Zerpa
authors.affiliation: Grupo Transdisciplinario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Adriana
authors.initials: A
authors.lastname: Urdaneta Contreras
authors.affiliation: Grupo Transdisciplinario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Malvy
authors.initials: M
authors.lastname: Maldonado Alviarez
authors.affiliation: Grupo Transdisciplinario de Investigaciones Biomédicas, Facultad de Medicina, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Miguel
authors.initials: M
authors.lastname: Brito Rodríguez
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D018206:Angiolipoma / Q000150:complications* / Q000175:diagnosis; D001932:Brain Neoplasms / Q000150:complications* / Q000175:diagnosis; D002648:Child; D006226:Hand Deformities / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D007714:Klippel-Feil Syndrome / Q000150:complications* / Q000175:diagnosis; D008297:Male; D013933:Thumb / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000150:complications* / Q000175:diagnosis
keywords: Angiolipoma; Klippel Feil syndrome; Thumb abnormality; Tracheoesophageal fistula; Vertebral fusion