{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T13:49:22Z","timestamp":1779889762130,"version":"3.53.1"},"reference-count":38,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fundaci\u00f3n Ernesto S\u00e1nchez Villares","award":["PMP22\/00008"],"award-info":[{"award-number":["PMP22\/00008"]}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PMP22\/00008"],"award-info":[{"award-number":["PMP22\/00008"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Regional Development Fund","award":["PMP22\/00008"],"award-info":[{"award-number":["PMP22\/00008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Develop a clinical and genetic characterization, in a group of small-for-gestational-age (SGA) patients who did not experience catch-up growth Methods: In an ambispective cohort study with (SGA) patients. These patients received one treatment with growth hormone (GH) over 14 years. This study analyzes their response to treatment and conducts a genetic analysis in order to identify cases with specific phenotypic and auxological characteristics, defined as presenting two or more dysmorphic traits and\/or a stature below \u22123 SDS (standard deviation score). Whole-exome sequencing (WES) was performed on selected patients. Results: Forty-four SGA patients were examined, with an average age of 6.4 (2.49) years and an initial size of \u22123.3 SDS. The pubertal growth was 24.1 (5.2) cm in boys and 14.7 (4.3) cm in girls. WES in 11 SGA patients revealed conclusive genetic variants in eight, including two pathogenic ACAN variants, one 15q26.2-q26.3 deletion, and four variants of uncertain significance in other genes. Conclusions: Treatment with GH in SGA patients was shown to be effective, with a similar response in the group with positive genetic results and in the group who did not undergo a genetic study. Genetic testing based on auxological and clinical criteria proved highly cost-effective.<\/jats:p>","DOI":"10.3390\/jcm13144006","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T15:27:20Z","timestamp":1720538840000},"page":"4006","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1424-4236","authenticated-orcid":false,"given":"Ram\u00f3n","family":"Arroyo-Ruiz","sequence":"first","affiliation":[{"name":"Pediatrics Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"},{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Urbano-Ruiz","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1397-9508","authenticated-orcid":false,"given":"Mar\u00eda Bel\u00e9n","family":"Garc\u00eda-Berrocal","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"},{"name":"Clinical Biochemistry Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Marcos-Vadillo","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"},{"name":"Clinical Biochemistry Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9013-9422","authenticated-orcid":false,"given":"Mar\u00eda","family":"Isidoro-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"},{"name":"Clinical Biochemistry Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"},{"name":"Department of Medicine, University of Salamanca, 37008 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2809-4611","authenticated-orcid":false,"given":"M. Montserrat","family":"Mart\u00edn-Alonso","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"},{"name":"Pediatrics Department, Endocrinolgy Unit, University Hospital of Salamanca, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2116-3565","authenticated-orcid":false,"given":"Ana Fe","family":"Bajo-Delgado","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Endocrinolgy Unit, University Hospital of Salamanca, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2680-3285","authenticated-orcid":false,"given":"Pablo","family":"Prieto-Matos","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Reference Unit for Rare Diseases DiERCyL, University Hospital of Salamanca, 37007 Salamanca, Spain"},{"name":"Biomedical Research Institute of Salamanca IBSAL, 37007 Salamanca, Spain"},{"name":"Department of Biomedical and Diagnostic Sciences, University of Salamanca, 37008 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9282-9139","authenticated-orcid":false,"given":"Juan Pedro","family":"L\u00f3pez-Siguero","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, University Hospital of M\u00e1laga, 29010 M\u00e1laga, Spain"},{"name":"Biomedical Research Institute of M\u00e1laga IBIMA, 29590 M\u00e1laga, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1542\/peds.111.6.1253","article-title":"International Small for Gestational Age Advisory Board Consensus Development Conference Statement: Management of Short Children Born Small for Gestational Age, April 24\u2013October 1, 2001","volume":"111","author":"Lee","year":"2003","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1210\/jc.2006-2017","article-title":"Management of the Child Born Small for Gestational Age through to Adulthood: A Consensus Statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society","volume":"92","author":"Clayton","year":"2007","journal-title":"J. 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