{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:45:18Z","timestamp":1773017118451,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T00:00:00Z","timestamp":1647820800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Joubert syndrome (JS) is a neurodevelopmental disorder characterized by hypotonia and developmental delay, as well as the obligatory molar tooth sign on brain imaging. Since hypotonia and developmental delay are nonspecific features, there must be a high level of clinical suspicion of JS so that the diagnostic brain imaging and\/or molecular testing for the &gt;38 genes associated with JS is\/are obtained. The goal of this study was to analyze clinical photographs of a cohort of patients with JS to define a list of physical examination features that should prompt investigation for JS. Analysis of photographs from 94 individuals with JS revealed that there is a recognizable pattern of facial features in JS that changes over time as individuals age. Macrocephaly, head tilting even when looking straight ahead, eye movement abnormalities (oculomotor apraxia, nystagmus, strabismus), and ptosis are common in those with JS. Distinctive features in younger children include triangular\u2010shaped open mouth with tongue protrusion; in older children and adults, mandibular prognathia and prominent nasal bridge are common.<\/jats:p>","DOI":"10.1002\/ajmg.c.31966","type":"journal-article","created":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T11:53:26Z","timestamp":1647863606000},"page":"121-130","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8264-6240","authenticated-orcid":false,"given":"RaeLynn","family":"Forsyth","sequence":"first","affiliation":[{"name":"Department of Pediatrics and McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6707-1004","authenticated-orcid":false,"given":"Melissa A.","family":"Parisi","sequence":"additional","affiliation":[{"name":"Intellectual &amp; Developmental Disabilities Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Altintas","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May Christine","family":"Malicdan","sequence":"additional","affiliation":[{"name":"National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Vilboux","sequence":"additional","affiliation":[{"name":"Inova Functional Laboratory Inova Health System  Fairfax Virginia USA"},{"name":"Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4292-4423","authenticated-orcid":false,"given":"Jasmine","family":"Knoll","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director National Institutes of Health  Bethesda Maryland USA"},{"name":"Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"Undiagnosed Disease Network, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and McKusick\u2010Nathans Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"},{"name":"Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32099"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.05.026"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.05660517"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a001321"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.19.9.813"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389901400906"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30229"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104425"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108114"},{"key":"e_1_2_8_14_1","first-page":"72","article-title":"Dysmorphic features of Joubert syndrome","volume":"5","author":"Squires L.","year":"1991","journal-title":"Dysmorphology Clinical Genetics"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001816"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38272"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.11.003"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.204"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-3299"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31966","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31966","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31966","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T20:50:46Z","timestamp":1692996646000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31966"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.c.31966"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31966","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"2021-12-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}