{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T22:09:50Z","timestamp":1783548590796,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T00:00:00Z","timestamp":1588550400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous activating variants in platelet\u2010derived growth factor, beta (<jats:italic>PDGFRB<\/jats:italic>) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A\u2009&gt;\u2009T p.(Ser493Cys), and the oldest known individual age 53\u2009years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long\u2010term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contractures, camptodactyly, widely spaced teeth, and constriction rings. We also propose novel occasional features including craniosynostosis, ocular pterygia, anterior chamber cleavage syndrome, early osteoporosis, increased pigmentation, recurrent haematomas, predisposition to cellulitis, nail dystrophy, carpal tunnel syndrome, recurrent hypoglycaemia in infancy, joint dislocation, and splenomegaly. Importantly, we report fusiform aneurysm of the basilar artery in two patients. Complications include thrombosis and stroke in the oldest reported patient and fatal rupture at the age of 21 in the patient with the novel variant. We conclude that cerebrovascular complications are part of the phenotypic spectrum of KOGS and KOGS\u2010like disorders and suggest vascular imaging is indicated in these patients.<\/jats:p>","DOI":"10.1111\/cge.13752","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T02:39:36Z","timestamp":1586918376000},"page":"19-31","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Kosaki overgrowth syndrome: A novel pathogenic variant in <scp><i>PDGFRB<\/i><\/scp> and expansion of the phenotype including cerebrovascular complications"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0216-3909","authenticated-orcid":false,"given":"Alison","family":"Foster","sequence":"first","affiliation":[{"name":"Institute of Cancer and Genomic Sciences University of Birmingham  Birmingham UK"},{"name":"West Midlands Regional Genetics Service and Birmingham Health Partners Birmingham Women's and Children's Hospitals NHS Foundation Trust  Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Basile","family":"Chalot","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u00ab Anomalies du D\u00e9veloppement et Syndromes Malformatifs \u00bb, H\u00f4pital d\u2019Enfants Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thalia","family":"Antoniadi","sequence":"additional","affiliation":[{"name":"West Midlands Regional Genetics Laboratory 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Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u00ab Anomalies du D\u00e9veloppement et Syndromes Malformatifs \u00bb, H\u00f4pital d\u2019Enfants Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique chromosomique et mol\u00e9culaire, UF Innovation en diagnostic g\u00e9nomique des maladies rares Centre Hospitalier Universitaire de Dijon  Dijon France"},{"name":"UMR\u2010Inserm 1231 GAD team, G\u00e9n\u00e9tique des Anomalies du d\u00e9veloppement Universit\u00e9 de Bourgogne Franche\u2010Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Bardou","sequence":"additional","affiliation":[{"name":"Service de Pharmacologie et Centre d'Investigation Clinique Centre Hospitalier 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child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis","author":"Guimier A","year":"2019","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0323-z"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31827ccf34"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.014"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020150"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13192"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61145"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31755"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12732"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_21_1","unstructured":"EllardS BapleE BerryI et 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ACGS Best Practice Guidelines for Variant Classification 2019. Association for Clinical Genomic Science Website.https:\/\/www.acgs.uk.com\/quality\/best-practice-guidelines. Accessed October 3 2019."},{"issue":"1","key":"e_1_2_8_22_1","first-page":"81","article-title":"Ehlers\u2010Danlos syndrome associated with gigantism, craniosynostosis and melanoderma","volume":"29","author":"Stoll C","year":"1974","journal-title":"Pediatrie"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35984"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2018.01.052"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-017-3115-x"},{"key":"e_1_2_8_26_1","first-page":"1","article-title":"PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib","author":"Arts FA","year":"2015","journal-title":"Oncogene"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2993"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13752","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13752","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13752","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T08:34:41Z","timestamp":1693730081000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,4]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/cge.13752"],"URL":"https:\/\/doi.org\/10.1111\/cge.13752","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,4]]},"assertion":[{"value":"2020-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-04","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}