{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T23:18:18Z","timestamp":1780442298493,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,8,7]],"date-time":"2012-08-07T00:00:00Z","timestamp":1344297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Costello syndrome is a rare condition due to heterozygous germline mutations in the proto\u2010oncogene <jats:italic>HRAS<\/jats:italic>. It affects multiple organ systems and includes severe failure\u2010to\u2010thrive, short stature, and macrocephaly. The goal of this study was to develop Costello syndrome\u2010specific 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\u2010for\u2010age data included 417 separate measurements from 80 individuals age 0\u201336 months, and 585 measurements from 82 individuals for age 0\u201310 years. Height\u2010for\u2010age data were derived from 391 measurements from 77 individuals age 0\u201336 months, and 591 measurements from 90 individuals age 0\u201310 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\u201336 months. Centiles (5th, 50th, and 95th) were estimated across the age continuum for each growth parameter, and compared to gender\u2010specific 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. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35534","type":"journal-article","created":{"date-parts":[[2012,8,7]],"date-time":"2012-08-07T19:59:24Z","timestamp":1344369564000},"page":"2692-2699","source":"Crossref","is-referenced-by-count":23,"title":["Normative growth charts for individuals with Costello syndrome"],"prefix":"10.1002","volume":"158A","author":[{"given":"Mary R.","family":"Sammon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Hopkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Sol\u2010Church","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah L.","family":"Stabley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"McGready","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Schulze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yewande","family":"Alade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Hoover\u2010Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_6_3_1","unstructured":"GrippK LinA.2009.Costello syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright University of Washington Seattle 1997\u20132010. Available at:http:\/\/www.genetests.orgAccessed September 15 2010."},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31047"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32227"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33391"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33884"},{"key":"e_1_2_6_8_1","first-page":"1","article-title":"CDC growth charts: United States","volume":"314","author":"Kuczmarski RJ","year":"2000","journal-title":"Adv Data"},{"key":"e_1_2_6_9_1","first-page":"1","article-title":"2000 CDC growth charts for the United States: Methods and development","volume":"11","author":"Kuczmarski RJ","year":"2002","journal-title":"Vital Health Stat"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2276"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054411"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32276"},{"key":"e_1_2_6_13_1","volume-title":"R: A language and environment for statistical computing","author":"R Development Core Team","year":"2010"},{"key":"e_1_2_6_14_1","first-page":"94","volume-title":"Noonan syndrome and related disorders. Monographs in human genetics","author":"Sol\u2010Church K","year":"2009"},{"key":"e_1_2_6_15_1","unstructured":"StasinopoulosM RigbyB AkantziliotouC.2008.Instructions on how to use the gamlss package in R Second edition.http:\/\/gamlss.org\/images\/stories\/papers\/gamlss\u2010manual.pdfAccessed November 29 2011."},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049270"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35534","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35534","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T03:24:15Z","timestamp":1694575455000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35534"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,7]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2012,11]]}},"alternative-id":["10.1002\/ajmg.a.35534"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35534","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,7]]}}}