Radiology Case Reports (Mar 2019)

Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report

  • Alessio Pirino, MD, Associate Professor,
  • Maria Alessandra Sotgiu, MD, Assistant Professor,
  • Erich Cosmi, MD, Associate Professor,
  • Andrea Montella, MD, Full Professor,
  • Pasquale Bandiera, MD, Associate Professor

Journal volume & issue
Vol. 14, no. 3
pp. 415 – 418

Abstract

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Klippel-Feil syndrome is a congenital malformation characterized by the fusion of at least 2 cervical vertebrae. It may occur in association with other clinical syndromes and disorders.We describe a case of prenatal diagnosis of a Klippel-Feil syndrome with Dandy-Walker malformation, and spina bifida, proved by ultrasound examination. A postmortem x-ray and autopsy were performed in a female fetus of 16 + 6 weeks of gestation: several malformations have been discovered.To the best of our knowledge, no similar cases have been reported in the medical literature. This case report underscores the importance of a careful ultrasound screening during pregnancy for an adequate diagnostic and therapeutic management. Keywords: Klippel-Feil syndrome, Dandy-Walker malformation, Spina bifida