Acta Pediátrica Española

ISSN 2014-2986

Información adicional

  • Num_publicacion 76(11-12)
  • Resumen_ingles
    Klippel-Feil syndrome (KFS) is characterized by congenital fusion of the cervical vertebrae because of a defect in the segmentation of the cervical spine between the 3rd and 8th week of pregnancy. It can be found isolated, associated with other systemic and skeletal disorders or be part of other syndromes. Most cases are sporadic, but familial cases with autosomal dominant or recessive inheritance have been described as well. Clinical triad findings (short neck, low posterior hairline, and limited cervical range of motion) are uncommon. Congenital torticollis is a form of early presentation, but rare. Imaging studies will confirm the diagnosis; in addition, further studies are required to exclude associated anomalies. Management of KFS depends on the associated features, as well as the presence of neurological symptoms because of nerve root or spinal cord compression.
    We present the case of a child with congenital torticollis as a way of KFS presentation.
     
  • Palabras_clave_ingles Klippel Feil syndrome Congenital torticollis Cervical vertebrae fusion
  • Todos_autores F.J. Molero Díaz1, M. Pérez Molina2
  • autores listados F.J. Molero Díaz, M. Pérez Molina
  • Correspondecia
    F.J. Molero Díaz. Centro de Salud Valle-Inclán. Valle-Inclán, 97. 28044 Madrid.
    Correo electrónico: fjmolero@yahoo.es
  • Titulo_ingles Congenital torticollis as a way of presentation of Klippel-Feil syndrome
  • Centros_trabajo 1Centro de Salud Valle-Inclán. Madrid. 2Centro de Salud Campamento. Madrid
  • Publicado en Acta Pediatr Esp. 2018; 76(11-12): e166-e169
  • copyright ©2018 Ediciones Mayo, S.A.
  • Fecha recepcion 20/09/17
  • Fecha aceptacion 20/10/17
  • Tipo de Artículo Clínico (Microdatos) Case Reports
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