{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:48:48Z","timestamp":1790027328767,"version":"4.0.1"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T00:00:00Z","timestamp":1587081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U54HG006542"],"award-info":[{"award-number":["1U54HG006542"]}],"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 A"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gomez\u2013L\u00f3pez\u2013Hern\u00e1ndez syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES\u2010associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.<\/jats:p>","DOI":"10.1002\/ajmg.a.61594","type":"journal-article","created":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T12:39:30Z","timestamp":1587127170000},"page":"1761-1766","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Gomez\u2013L\u00f3pez\u2013Hern\u00e1ndez syndrome: A case report with clinical and molecular evaluation and literature review"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1368-2381","authenticated-orcid":false,"given":"Eduardo","family":"Perrone","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e2nia","family":"D'Almeida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Psychobiology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara Lygia","family":"de Macena Sobreira","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Berlim","family":"de Mello","sequence":"additional","affiliation":[{"name":"Department of Psychobiology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan Chiaratti","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00eanio","family":"Burlin","sequence":"additional","affiliation":[{"name":"Department of Radiology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria de F\u00e1tima de Faria","family":"Soares","sequence":"additional","affiliation":[{"name":"Department of Radiology Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirlene Cec\u00edlia Soares Pinho","family":"Cernach","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Universidade Metropolitana de Santos  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz","family":"Alvarez Perez","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Universidade Federal de S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31666"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.019"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36830"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(79)80039-X"},{"key":"e_1_2_9_6_1","first-page":"29","volume-title":"Handbook of clinical neurology","author":"Haldipur P.","year":"2018"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/dgd.12293"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn828"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2007.00773.x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.5301\/ejo.5000138"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35817"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1259-7"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30967"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35561"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<302::AID-AJMG2>3.0.CO;2-B"},{"key":"e_1_2_9_18_1","volume-title":"Escala Wechsler de Intelig\u00eancia para Crian\u00e7as \u2013 Quarta Edi\u00e7\u00e3o (WISC IV)","author":"Wechsler D.","year":"2013"},{"issue":"5","key":"e_1_2_9_19_1","first-page":"292","article-title":"S\u00edndrome de Gomez\u2013L\u00f3pez\u2013Hern\u00e1ndez (displasia cerebelo\u2010trig\u00e9mino\u2010d\u00e9rmica). Informe de um caso","volume":"32","author":"Zald\u00edvar\u2010Pascua G.","year":"2011","journal-title":"Acta Pedi\u00e1trica de M\u00e9xico"}],"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.61594","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61594","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61594","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61594","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T05:21:13Z","timestamp":1693804873000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,17]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ajmg.a.61594"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61594","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,17]]},"assertion":[{"value":"2019-07-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}