{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T08:58:01Z","timestamp":1793177881618,"version":"4.5.0"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T00:00:00Z","timestamp":1657065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["303294\/2020\u20105"],"award-info":[{"award-number":["303294\/2020\u20105"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","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":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most infants born with very low birth weight (VLBW, birth weight\u2009&lt;\u20091500\u2009g) show spontaneous catch\u2010up growth in postnatal life. The reasons for the absence of catch\u2010up growth are not entirely understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty\u2010three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (<jats:italic>n<\/jats:italic>\u00a0=\u00a014) or without clinical suspicion (<jats:italic>n<\/jats:italic>\u00a0=\u00a014) were assessed by chromosome microarray analysis (CMA) and\/or whole\u2010exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA\/WES). Silver\u2013Russell syndrome was the most frequent diagnosis (<jats:italic>n<\/jats:italic>\u00a0=\u00a05) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic\/epigenetic condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62892","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T16:04:46Z","timestamp":1657123486000},"page":"2599-2604","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["High frequency of genetic\/epigenetic disorders in short stature children born with very low birth weight"],"prefix":"10.1002","volume":"188","author":[{"given":"Bruna Lucheze","family":"Freire","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42 Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thais Kataoka","family":"Homma","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42 Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio Marcondes","family":"Lerario","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes University of Michigan  Ann Arbor Michigan USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Go Hun","family":"Seo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics 3billion Inc.  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heonjong","family":"Han","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics 3billion Inc.  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Ferreira","family":"de Assis Funari","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42 Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia Lisboa","family":"Gomes","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Santa Casa de Belo Horizonte  Belo Horizonte Minas Gerais Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Rosemberg","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Evolutionary Biology, Biosciences Institute University of S\u00e3o Paulo  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-8605","authenticated-orcid":false,"given":"Ana Cristina Victorino","family":"Krepischi","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Evolutionary Biology, Biosciences Institute University of S\u00e3o Paulo  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"de Andrade Vasques","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42 Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1514-0244","authenticated-orcid":false,"given":"Alexsandra Christianne","family":"Malaquias","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia Pedi\u00e1trica, Departamento de Pediatria, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo Faculdade de Ci\u00eancias M\u00e9dicas da Santa Casa de S\u00e3o Paulo  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2567-7360","authenticated-orcid":false,"given":"Alexander Augusto","family":"de Lima Jorge","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM25) Hospital das Clinicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"},{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM42 Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (FMUSP)  S\u00e3o Paulo Consolacao Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13939"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-11-66"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000502231"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2018.12.004"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2020.105187"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2019-00019"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/837971"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2018-00083"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-01971"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2017.63"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.08.024"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000481777"},{"key":"e_1_2_10_14_1","first-page":"1","article-title":"CDC growth charts: United States","author":"Kuczmarski R. 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