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

Publisher Website
Google Scholar
Abstract
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.