{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T13:43:44Z","timestamp":1792417424134,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>KBG syndrome (MIM #148050) is an autosomal dominant <jats:italic>disorder characterized<\/jats:italic> by developmental delay, intellectual disability, distinct craniofacial anomalies, macrodontia of permanent upper central incisors, skeletal abnormalities, and short stature. This study describes clinical features of 28 patients, confirmed by molecular testing of <jats:italic>ANKRD11<\/jats:italic> gene, and three patients with 16q24 deletion encompassing <jats:italic>ANKRD11<\/jats:italic> gene, diagnosed in a single center. Common clinical features are reported, together with uncommon findings, clinical expression in the first years of age, distinctive associations, and familial recurrences. Unusual manifestations emerging from present series include juvenile idiopathic arthritis, dysfunctional dysphonia, multiple dental agenesis, idiopathic precocious telarche, oral frenula, motor tics, and lipoma of corpus callosum, pilomatrixoma, and endothelial corneal polymorphic dystrophy. Facial clinical markers suggesting KBG syndrome before 6\u2009years of age include ocular and mouth conformation, wide eyebrows, synophrys, long black eyelashes, long philtrum, thin upper lip. General clinical symptoms leading to early genetic evaluation include developmental delay, congenital malformations, hearing anomalies, and feeding difficulties. It is likely that atypical clinical presentation and overlapping features in patients with multiple variants are responsible for underdiagnosis in KBG syndrome. Improved knowledge of common and atypical features of this disorder improves clinical management.<\/jats:p>","DOI":"10.1002\/ajmg.a.61524","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T09:43:12Z","timestamp":1583228592000},"page":"1073-1083","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":42,"title":["KBG syndrome: Common and uncommon clinical features based on 31 new patients"],"prefix":"10.1002","volume":"182","author":[{"given":"Maria","family":"Gnazzo","sequence":"first","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5331-0473","authenticated-orcid":false,"given":"Francesca R","family":"Lepri","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9505-5906","authenticated-orcid":false,"given":"Maria Lisa","family":"Dentici","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Capolino","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Pisaneschi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"Emanuele","family":"Agolini","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Rinelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Alesi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department of Pediatrics, Sapienza University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5514-5018","authenticated-orcid":false,"given":"Silvia","family":"Genovese","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Cesario","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Sinibaldi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9428-4934","authenticated-orcid":false,"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department of Pediatrics, Sapienza University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cappa","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0205-9634","authenticated-orcid":false,"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Medical Genetics, Rare Diseases Pediatric Cardiology, and Endocrinology Units, Scientific Rectorate, Bambino Ges\u00f9 Pediatric Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0745-7"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102573"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30292"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-50"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<140::AID-AJMG8>3.0.CO;2-A"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.11.031"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37878"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2015-210352"},{"key":"e_1_2_10_10_1","first-page":"7","article-title":"The KBG syndrome \u2010 a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies","volume":"11","author":"Herrmann J.","year":"1975","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.105"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.11.003"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","first-page":"a001131","DOI":"10.1101\/mcs.a001131","article-title":"KBG syndrome involving a single\u2010nucleotide duplication in ANKRD11","volume":"2","author":"Kleyner R.","year":"2016","journal-title":"Cold Spring Harbor Molecular Case Study"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12983"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32113"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37842"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30293"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0736-8"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38121"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.49"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304484"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.130"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12564"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516767"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000380908"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34436"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000496172"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"e_1_2_10_29_1","first-page":"168","volume":"6","author":"Soden S. E.","year":"2014","journal-title":"Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Science Translational Medicine"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36450"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2017.00248"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1509-2"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.192"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.01.007"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.05.017"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520310"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61524","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61524","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61524","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61524","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T20:44:48Z","timestamp":1694033088000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61524"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,3]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/ajmg.a.61524"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61524","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,3]]},"assertion":[{"value":"2019-08-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}