Article
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
American journal of medical genetics. Part A - 1 Nov 2011
Parsley Lea, Bellus Gary, Handler Michael, Tsai Anne Chun-Hui
Abstract excerpt
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...
Topics
- Adolescent
- Arnold-Chiari Malformation
- CREB-Binding Protein
- Female
- Gastrostomy
- Humans
- Magnetic Resonance Imaging
- Mutation
- Physical Examination
- Rubinstein-Taybi Syndrome
- Scoliosis