title: Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.
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.
authors.affiliation: Department of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan. tyamamoto-jes@umin.ac.jp
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Okuzumi
authors.forename: Soichi
authors.initials: S
authors.lastname: Kondo
authors.forename: Sahoko
authors.initials: S
authors.lastname: Miyama
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
mesh_terms: D000293:Adolescent; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000473:pathology; D013122:Spinal Diseases / Q000150:complications* / Q000151:congenital