{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T23:05:49Z","timestamp":1770678349365,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T00:00:00Z","timestamp":1594425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["788093"],"award-info":[{"award-number":["788093"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007155","name":"Medical Research Council Canada","doi-asserted-by":"publisher","award":["MC_UU_00007\/5"],"award-info":[{"award-number":["MC_UU_00007\/5"]}],"id":[{"id":"10.13039\/501100007155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Saul\u2013Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. Recently, recurrent mutations in <jats:italic>COG4<\/jats:italic>, encoding a component of the Conserved Oligomeric Golgi (COG) complex, were identified. We created detailed growth curves for stature, weight, and head circumference, as well as weight\u2010for\u2010length and weight velocity charts for younger children, derived from hundreds of data points obtained by retrospective chart review from 14 individuals with molecularly\u2010confirmed SWS. In addition, we performed statistical comparisons of height\u2010for\u2010age model fits before and after initiation of growth hormone supplementation, and found that this therapy does not appear to influence height in individuals with SWS. We hope that these charts will represent valuable tools for clinicians, both in assessing whether SWS seems an appropriate diagnosis, as well as to monitor growth of affected individuals. In particular, we hope that our detailed growth characterization will reduce morbidity resulting from unnecessarily aggressive nutritional interventions by well\u2010intentioned physicians trying to promote weight gain, an unrealistic goal in this genetically\u2010determined cause of primordial dwarfism.<\/jats:p>","DOI":"10.1002\/ajmg.a.61754","type":"journal-article","created":{"date-parts":[[2020,7,11]],"date-time":"2020-07-11T21:39:06Z","timestamp":1594503546000},"page":"2110-2116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Growth in individuals with <scp>Saul\u2013Wilson<\/scp> syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Niiler","sequence":"additional","affiliation":[{"name":"Gait Laboratory Nemours\/A.I. duPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela L.","family":"Duker","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics Nemours\/A.I. duPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew P.","family":"Jackson","sequence":"additional","affiliation":[{"name":"MRC Human Genetics Unit Institute of Genetics and Molecular Medicine, University of Edinburgh  Edinburgh UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael B.","family":"Bober","sequence":"additional","affiliation":[{"name":"Division of Orthogenetics Nemours\/A.I. duPont Hospital for Children  Wilmington Delaware USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35447"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0410"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-13-59"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.003"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510304"},{"key":"e_1_2_9_7_1","unstructured":"Kuczmarski R. J. Ogden C. L. Guo S. S. Grummer\u2010Strawn L. M. Flegal K. M. Mei Z. \u2026Johnson C. L.(2002). 2000 CDC growth charts for the United States: Methods and development.Vital and Health Statistics. Series 11 Data from the National Health Survey 246 1\u2013190."},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.csda.2009.08.001"},{"key":"e_1_2_9_9_1","volume-title":"R: A language and environment for statistical computing","author":"R Core Team","year":"2017"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.79.5.706"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350315"},{"issue":"1","key":"e_1_2_9_12_1","first-page":"102","article-title":"Unknown cases","volume":"1","author":"Saul R. 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