Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx

Lea Parsley, Gary Bellus, Michael Handler, Anne Chun Hui Tsai

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2766-2770
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number11
DOIs
StatePublished - Nov 1 2011

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Keywords

  • Chiari malformation
  • Rubinstein-Taybi syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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