How to cite this article: Piccione M, Piro E, Pomponi MG, Matina F, Pietrobono R, Candela E, Gabriele B, Neri G, Corsello G. 2009. A premature infant with Costello syndrome due to a rare G13C HRAS mutation. Am J Med Genet Part A 149A:487–489.
A premature infant with Costello syndrome due to a rare G13C HRAS mutation†
Article first published online: 11 FEB 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 3, pages 487–489, March 2009
How to Cite
Piccione, M., Piro, E., Pomponi, M. G., Matina, F., Pietrobono, R., Candela, E., Gabriele, B., Neri, G. and Corsello, G. (2009), A premature infant with Costello syndrome due to a rare G13C HRAS mutation. Am. J. Med. Genet., 149A: 487–489. doi: 10.1002/ajmg.a.32674
- Issue published online: 24 FEB 2009
- Article first published online: 11 FEB 2009
- Manuscript Accepted: 3 NOV 2008
- Manuscript Received: 6 DEC 2007
- Costello syndrome;
- HRAS mutation
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation. © 2009 Wiley-Liss, Inc.