{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T03:21:05Z","timestamp":1765423265085,"version":"3.44.0"},"reference-count":23,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver\u2013Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance\u2013Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.<\/jats:p>","DOI":"10.1055\/s-0041-1726037","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T19:51:10Z","timestamp":1618429870000},"page":"279-286","source":"Crossref","is-referenced-by-count":2,"title":["Short Stature Syndromes: Case Series from India"],"prefix":"10.53391","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parminder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohd","family":"Shariq","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Devika D.","family":"Naorem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.C.","family":"Gowtham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5307-5677","authenticated-orcid":false,"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3279-6002","authenticated-orcid":false,"given":"Devi","family":"Dayal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Advanced Pediatric Center, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,4,14]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/nrendo.2016.138","article-title":"Diagnosis and management of Silver-Russell syndrome: first international consensus statement","volume":"13","author":"E L Wakeling","year":"2017","journal-title":"Nat Rev Endocrinol"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00438-015-1110-y","article-title":"Primordial dwarfism: overview of clinical and genetic aspects","volume":"291","author":"P Khetarpal","year":"2016","journal-title":"Mol Genet Genomics"},{"issue":"01","key":"ref3","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/s13148-020-00865-x","article-title":"Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown 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