{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:20:41Z","timestamp":1784694041863,"version":"3.55.0"},"reference-count":29,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T00:00:00Z","timestamp":1694044800000},"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":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Moebius syndrome is a congenital cranial dysinnervation disorder (CCDD) that presents with nonprogressive cranial nerve (CN) VI and VII palsies resulting in facial weakness and inability to abduct the eye(s). While many CCDDs have an underlying genetic cause, the etiology of Moebius syndrome remains unclear as most cases are sporadic. Here, we describe a pair of monochorionic, diamniotic twin girls; one with normal growth and development, and one with micrognathia, reduced facial expression, and poor feeding. Magnetic resonance imaging of the brain performed on the affected twin at 19\u2009months of age showed severely hypoplastic or absent CN IV bilaterally, left CN VI smaller than right, and bilateral hypoplastic CN VII and IX, consistent with a diagnosis of a CCDD, most similar to that of Moebius syndrome. Genomic sequencing was performed on each twin and data was assessed for discordant variants, as well as variants in novel and CCDD\u2010associated genes. No pathogenic, likely pathogenic, or variants of uncertain significance were identified in genes known to be associated with CCDDs or other congenital facial weakness conditions. This family provides further evidence in favor of a stochastic event as the etiology in Moebius syndrome, rather than a monogenic condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.63389","type":"journal-article","created":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T10:55:35Z","timestamp":1694084135000},"page":"2743-2748","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6791-6414","authenticated-orcid":false,"given":"Ryan W.","family":"Gates","sequence":"first","affiliation":[{"name":"Department of Genetics Cook Children's Hospital  Fort Worth Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-4677","authenticated-orcid":false,"given":"Bryn D.","family":"Webb","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"},{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8983-5466","authenticated-orcid":false,"given":"Ethylin Wang","family":"Jabs","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colette","family":"DeFilippo","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine, Department of Pediatrics UC Davis MIND Institute  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9610-1612","authenticated-orcid":false,"given":"Maura R. Z.","family":"Ruzhnikov","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6227-7895","authenticated-orcid":false,"given":"Christina G.","family":"Tise","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Lucile Packard Children's Hospital and Stanford University  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199809040-00004"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230405"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00649.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.NMC.0000334892.45979.d5"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819309087618"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(03)00408-9"},{"issue":"6","key":"e_1_2_8_8_1","first-page":"434","article-title":"Congenital oculo\u2010facial paralysis (Moebius syndrome): Evidence of dominant inheritance in two families","volume":"11","author":"Dotti M. 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