Mary R. Sammon, Dan Doyle, Julie Hoover-Fong, and Karen W. Gripp contributed equally to this work.
Article first published online: 7 AUG 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2692–2699, November 2012
How to Cite
Sammon, M. R., Doyle, D., Hopkins, E., Sol-Church, K., Stabley, D. L., McGready, J., Schulze, K., Alade, Y., Hoover-Fong, J. and Gripp, K. W. (2012), Normative growth charts for individuals with Costello syndrome. Am. J. Med. Genet., 158A: 2692–2699. doi: 10.1002/ajmg.a.35534
How to Cite this Article: Sammon MR, Doyle D, Hopkins E, Sol-Church K, Stabley DL, McGready J, Schulze K, Alade Y, Hoover-Fong J, Gripp KW. 2012. Normative growth charts for individuals with Costello syndrome. Am J Med Genet Part A 158A: 2692–2699.
- Issue published online: 17 OCT 2012
- Article first published online: 7 AUG 2012
- Manuscript Accepted: 11 MAY 2012
- Manuscript Received: 25 APR 2011
- Costello syndrome;
Costello syndrome is a rare condition due to heterozygous germline mutations in the proto-oncogene HRAS. It affects multiple organ systems and includes severe failure-to-thrive, short stature, and macrocephaly. The goal of this study was to develop Costello syndrome-specific growth curves. We collected height, weight, and head circumference (OFC) measurements from 94 individuals (45 males and 49 females). Their HRAS mutation spectrum reflects previously published cohorts, with p.G12S in 77.7%. Participants received medical care, therefore our data does not reflect natural history per se, but rather growth with nutritional support. Due to limited cohort size, we analyzed data from males and females together. Weight-for-age data included 417 separate measurements from 80 individuals age 0–36 months, and 585 measurements from 82 individuals for age 0–10 years. Height-for-age data were derived from 391 measurements from 77 individuals age 0–36 months, and 591 measurements from 90 individuals age 0–10 years. Measurements obtained after growth hormone exposure in 15 individuals were excluded in this analysis. The OFC curve was derived from 221 measurements from 55 individuals age 0–36 months. Centiles (5th, 50th, and 95th) were estimated across the age continuum for each growth parameter, and compared to gender-specific curves for average stature individuals. The resulting curves demonstrate very slow weight gain in the first 2 years. Short stature is seen in many, but after age 4 years the 95th centile for height falls within the low normal range for average stature children. Head circumference curves largely overlap those for average stature, reflecting relative macrocephaly. © 2012 Wiley Periodicals, Inc.