{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:15:08Z","timestamp":1772781308875,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3739,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,3,13]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We review 43 patients (15 new, 28 literature) with the branchio\u2010oculo\u2010facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial anomalies. Virtually ubiquitous and possibly pathognomonic are the cervical\/infra\u2010auricular skin defects. Much less common are supra\u2010auricular defects occurring as isolated anomalies or with cervical defects. Regardless of location, these lesions may have aplastic, \u201chemangiomatous,\u201d or otherwise abnormal overlying skin, and draining sinus fistulae. Renal malformations are frequent, but congenital heart and central nervous system defects are rare. Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common. Autoso\u2010mal dominant inheritance seems likely. Overlap between the BOF and branchio\u2010oto\u2010renal syndromes has been observed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations considered to be possibly affected or probably unaffected, who are sufficiently unusual to be excluded from the final data analysis. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560112","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:58:53Z","timestamp":1118512733000},"page":"42-59","source":"Crossref","is-referenced-by-count":65,"title":["Further delineation of the branchio\u2010oculo\u2010facial syndrome"],"prefix":"10.1002","volume":"56","author":[{"given":"Angela E.","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iosif W.","family":"Lurie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han 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