Klippel-Feil syndrome: about a case in Ecuador.
Authors: Cristian Carlos Ramírez Portilla, Roberto Michael Ramírez Guamán, Rosa A. Espinoza Ramírez, Luis Damián Ponce López, Katherine Michelle Samaniego Vásquez
Abstract
Klippel-Feil syndrome (KFS) is a heterogeneous group of vertebral malformations that presents a monogenic genetic component, characterized by a defect in the formation or segmentation of the cervical vertebrae, which results in a fused appearance. The clinical triad consists of a short neck, a low hairline and a
limited movement of the neck. We present the case of a 17 year-old male patient who presented the clinical and radiological findings of this anomaly.
Key words: Klippel-Feil syndrome, short neck, cervical fusion, low hairline, scoliosis.
