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However, unilateral renal agenesis was present in the first child, a defect infrequently found in the BOF syndrome. Both the mother and her son also had bilateral supra\u2010auricular sinuses. These defects may represent persistence of the otic vesicle sinus tract. The second child has a mild expression of this condition, among the mildest reported in the literature. The BOFS appears to represent a spectrum involving the development of the optic vesicles, branchial arches, eyes, face, lips, and kidneys. The variations seen in this disorder and the overlap between this condition and the branchio\u2010oto\u2010renal syndrome may represent different mutations within a single gene or may be a contiguous gene deletion syndrome. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490413","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:57:00Z","timestamp":1118509020000},"page":"414-421","source":"Crossref","is-referenced-by-count":20,"title":["Branchio\u2010oculo\u2010facial syndrome: Broadening the spectrum"],"prefix":"10.1002","volume":"49","author":[{"given":"Michelle","family":"McCool","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David 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