{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T21:38:41Z","timestamp":1780609121531,"version":"3.54.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"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>We report a female patient with craniofrontonasal syndrome (CFNS) who in addition showed other cranial and extracranial midline defects including partial corpus callosum agenesis, ocular melanocytosis, pigmentary glaucoma, duplex collecting system, <jats:italic>uterus didelphys<\/jats:italic>, and septate vagina. She was found to have a novel pathogenic variant in exon 5 of <jats:italic>EFNB1<\/jats:italic>, c.646G&gt;T (p.Glu216*) predicted to cause premature protein truncation. From our review, we found at least 39 published CFNS patients with extracranial midline defects, comprising congenital diaphragmatic hernia, congenital heart defects, umbilical hernia, hypospadias, and less frequently, sacrococcygeal teratomas, and internal genital anomalies in females. These findings support that the <jats:italic>EFNB1<\/jats:italic> mutations have systemic consequences disrupting morphogenetic events at the extracranial midline. Though these are not rigorously included as midline defects, we found at least 10 CFNS patients with congenital anomalies of the kidney and urinary tract, all females. Additionally, <jats:italic>uterus didelphys<\/jats:italic> and ocular melanocytosis observed in our patient are proposed also as a previously unreported <jats:italic>EFNB1<\/jats:italic>\u2010related midline defects. In addition, this case may be useful for considering the intentional search for genitourinary anomalies in future patients with CFNS, which will be helpful to define their frequency in this entity.<\/jats:p>","DOI":"10.1002\/ajmg.a.61506","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T13:39:11Z","timestamp":1580909951000},"page":"1223-1229","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel <i>EFNB1<\/i> mutation"],"prefix":"10.1002","volume":"182","author":[{"given":"Elizabeth","family":"Acosta\u2010Fern\u00e1ndez","sequence":"first","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division \"Dr. Juan I. Menchaca\" Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9716-8146","authenticated-orcid":false,"given":"Juan C.","family":"Zenteno","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology 'Conde de Valenciana\u2019  Mexico City Mexico"},{"name":"Faculty of Medicine, Department of Biochemistry UNAM  Mexico City Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar F.","family":"Chac\u00f3n\u2010Camacho","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Ophthalmology 'Conde de Valenciana\u2019  Mexico City Mexico"},{"name":"School of Medicine, Faculty of Superior Studies\u2013Iztacala UNAM  Tlalnepantla Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Pe\u00f1a\u2010Padilla","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division \"Dr. Juan I. Menchaca\" Civil Hospital of Guadalajara  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7035-7924","authenticated-orcid":false,"given":"Lucina","family":"Bobadilla\u2010Morales","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division \"Dr. Juan I. Menchaca\" Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, \"Dr. Enrique Corona\u2010Rivera\" Institute of Human Genetics  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division \"Dr. Juan I. Menchaca\" Civil Hospital of Guadalajara  Guadalajara Mexico"},{"name":"University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, \"Dr. Enrique Corona\u2010Rivera\" Institute of Human Genetics  Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen O.","family":"Romo\u2010Huerta","sequence":"additional","affiliation":[{"name":"Service of Ophthalmology, Division of Pediatrics \u2018Dr. Juan I. 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