Résumé
El síndrome de Klippel-Feil (KFS) es un grupo heterogéneo de malformaciones a nivel vertebral que presentan un componente genético monogénico; se caracteriza por presentar un defecto en la formación o segmentación de las vértebras cervicales, que da como resultado una apariencia fusionada. La tríada clínica consiste en un cuello corto, una línea de implantación baja del cabello y un movimiento limitado del cuello. Presentamos el caso de un paciente masculino de 17 años que manifiesta los hallazgos clínicos y radiológicos de esta anomalía. (AU)
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. (AU)
Sujets)
Humains , Mâle , Femelle , Grossesse , Adolescent , Adulte , Jeune adulte , Syndrome de Klippel-Feil/thérapie , Cou/malformations , Scoliose/imagerie diagnostique , Antipyrétiques/usage thérapeutique , Perte d'audition , Analgésiques/usage thérapeutique , Syndrome de Klippel-Feil/étiologie , Syndrome de Klippel-Feil/génétique , Syndrome de Klippel-Feil/imagerie diagnostique , Antibactériens/usage thérapeutiqueRésumé
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases.