The adult phenotype in Costello syndrome
Article first published online: 6 JUN 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 136A, Issue 2, pages 128–135, 15 July 2005
How to Cite
White, S. M., Graham, J.M., Kerr, B., Gripp, K., Weksberg, R., Cytrynbaum, C., Reeder, J.L., Stewart, F.J., Edwards, M., Wilson, M. and Bankier, A. (2005), The adult phenotype in Costello syndrome. Am. J. Med. Genet., 136A: 128–135. doi: 10.1002/ajmg.a.30747
- Issue published online: 23 JUN 2005
- Article first published online: 6 JUN 2005
- Manuscript Accepted: 6 MAR 2005
- Manuscript Received: 6 DEC 2004
- Costello syndrome;
- natural history;
- adult phenotype
We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult-onset gastro-esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro-imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation. © 2005 Wiley-Liss, Inc.