{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:03:02Z","timestamp":1779930182526,"version":"3.53.1"},"reference-count":16,"publisher":"S. Karger AG","issue":"9-10","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the &lt;i&gt;PLK4&lt;\/i&gt; gene&lt;i&gt;,&lt;\/i&gt; which encodes the polo-like kinase 4 protein involved in centriole biogenesis, has been recently identified in several patients with MCPH and various ethnic backgrounds. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Here, we describe 2 siblings of different sex from Equatorial Guinea harboring a homozygous frameshift mutation in &lt;i&gt;PLK4&lt;\/i&gt; (c.1299_1303del, p.Phe433Leufs*6). A Seckel syndrome spectrum phenotype was present in both siblings, with short stature, severe MCPH, reduced brain volume, and distinctive facial features. They also presented severe intellectual disability, lissencephaly\/pachygyria, subependymal heterotopia, and ophthalmological impairment. One of them suffered from deafness, and scoliosis was observed in the other. &lt;b&gt;&lt;i&gt;Discussion\/Conclusion:&lt;\/i&gt;&lt;\/b&gt; Biallelic variants in &lt;i&gt;PLK4&lt;\/i&gt; lead to a syndrome where severe short stature, MCPH, and cognitive impairment are constant features. However, ocular, skeletal, and other neurological manifestations can vary upon the same genetic basis. <\/jats:p>","DOI":"10.1159\/000514280","type":"journal-article","created":{"date-parts":[[2021,4,14]],"date-time":"2021-04-14T21:07:28Z","timestamp":1618434448000},"page":"567-572","source":"Crossref","is-referenced-by-count":7,"title":["Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings"],"prefix":"10.1159","volume":"93","author":[{"given":"\u00c1lvaro","family":"Mart\u00edn-Rivada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Pozo-Rom\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"G\u00fcemes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3835-7203","authenticated-orcid":false,"given":"Nelmar Valentina","family":"Ortiz-Cabrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1988-3005","authenticated-orcid":false,"given":"Luis A.","family":"P\u00e9rez-Jurado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5826-0276","authenticated-orcid":false,"given":"Jes\u00fas","family":"Argente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,3,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2018.05.012"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-39"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.coemr.2020.03.007"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.011"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.12.11.3340"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.093930"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3122"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102790"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.119"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.12.003"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.017"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1747084"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ng1605"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.263"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36707"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/514280","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/514280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:23:07Z","timestamp":1745425387000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000514280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":16,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2021,4,14]]},"published-print":{"date-parts":[[2021,4,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000514280","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}