Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome.
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.
Yamamoto
Toshiyuki
T
Department of Medical Genetics, Clinical Research Institute, Kanagawa Children's Medical Center (KCMC), Yokohama, Japan. tyamamoto-jes@umin.ac.jp
Kurosawa
Kenji
K
Masuno
Mitsuo
M
Okuzumi
Shigeharu
S
Kondo
Soichi
S
Miyama
Sahoko
S
Okamoto
Nobuhiko
N
Aida
Noriko
N
Nishimura
Gen
G
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