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Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome
Author(s) -
Yamamoto Toshiyuki,
Kurosawa Kenji,
Masuno Mitsuo,
Okuzumi Shigeharu,
Kondo Soichi,
Miyama Sahoko,
Okamoto Nobuhiko,
Aida Noriko,
Nishimura Gen
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30708
Subject(s) - medicine , rubinstein–taybi syndrome , myelopathy , short stature , hypoplasia , complication , cervical vertebrae , surgery , dysostosis , spinal cord , congenital disease , pediatrics , dermatology , psychiatry
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. © 2005 Wiley‐Liss, Inc.