How to Cite this Article: Parsley L, Bellus G, Handler M, Tsai AC-H. 2011. Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet Part A 155: 2766–2770.
Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx†
Article first published online: 19 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2766–2770, November 2011
How to Cite
Parsley, L., Bellus, G., Handler, M. and Tsai, A. C.-H. (2011), Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx. Am. J. Med. Genet., 155: 2766–2770. doi: 10.1002/ajmg.a.34227
- Issue published online: 20 OCT 2011
- Article first published online: 19 SEP 2011
- Manuscript Accepted: 30 JUN 2011
- Manuscript Received: 31 MAR 2011
- Rubinstein–Taybi syndrome;
- Chiari malformation
Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes in recent years. Two previous studies have noted an association of Chiari malformations with Rubinstein–Taybi syndrome (RTS). In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. RTS has been found to be associated with craniocervical abnormalities in literature review, and this clinical report demonstrates the prudent consideration of the physician who cares for patients impacted by RTS to effectively screen via symptomatology and physical examination for Chiari pathology or other craniocervical abnormalities. © 2011 Wiley Periodicals, Inc.