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Persistent neck pain in a girl: Klippel-Feil syndrome
  1. Paola Sabrina Buonuomo1,
  2. Marina Macchiaiolo1,
  3. Giovanna Stefania Colafati2,
  4. Ippolita Rana3,
  5. Paolo Tomà2,
  6. Michaela Veronika Gonfiantini1,
  7. Andrea Bartuli1
  1. 1 Rare Diseases and Medical Genetics, Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy
  2. 2 Department of Imaging, Bambino Gesù Children's Hospital, Rome, Italy
  3. 3 General Pediatrics and Infectious Diseases, Bambino Gesù Children's Hospital, Rome, Italy
  1. Correspondence to Dr Paola Sabrina Buonuomo, Rare Diseases and Medical Genetics, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, Rome, Italy; psabrina.buonuomo{at}opbg.net

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A 4-year-old girl was referred for recurrent neck pain. On examination, she was noted to have a short neck with very limited range of motion and a low-set posterior hairline. Suspecting Klippel-Feil Syndrome (KFS), X-rays (figure 1A and B) and CT (figure 1C and D) with three-dimensional reconstruction (see online supplementary video 1) were performed and a complex malformation of the cervical spine and craniocervical junction was detected.

Figure 1

(A and B) Anteroposterior and …

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