Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome

Am J Med Genet A. 2005 Jun 1;135(2):130-3. doi: 10.1002/ajmg.a.30708.


Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and mental retardation. RTS is accompanied by a variety of morbid complications, particularly of the skeleton. Based on the experience of five RTS patients with malformation of the craniovertebral junction, we draw attention to previously unrecognized life-threatening complications of RTS, including instability of C1-C2, os odontoideum, hypoplasia of the dens, and fusion of the cervical vertebrae. One patient developed severe cervical myelopathy. Malformation of the cervical spine may be a common syndromic constituent of RTS, to which special attention should be paid to prevent its neurologic sequelae.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Cervical Vertebrae / abnormalities*
  • Cervical Vertebrae / diagnostic imaging
  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Radiography
  • Rubinstein-Taybi Syndrome / complications*
  • Rubinstein-Taybi Syndrome / pathology
  • Spinal Diseases / complications*
  • Spinal Diseases / congenital