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This study reports four new cases confirmed by the identification of mutations in the TFAP2A gene and describes in detail the findings in the craniofacial region. The four cases included two familial and two sporadic, and three have been followed since the birth. Two out of the four cases showed atypical features. One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. Another patient had as an additional feature a hypoplastic thumb with distal implantation.<\/jats:p>","DOI":"10.1597\/10-203","type":"journal-article","created":{"date-parts":[[2011,5,3]],"date-time":"2011-05-03T20:20:44Z","timestamp":1304454044000},"page":"357-364","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Craniofacial Phenotype in the Branchio-Oculo-Facial Syndrome: Four Case Reports"],"prefix":"10.1177","volume":"49","author":[{"given":"Eva","family":"Galliani","sequence":"first","affiliation":[{"name":"Department of Pediatric Maxillo-Facial and Plastic Surgery, Trousseau Hospital, AP-HP, Paris, France."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Trousseau Hospital, AP-HP, Paris, France."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natacha","family":"Kadlub","sequence":"additional","affiliation":[{"name":"Department of Pediatric Maxillo-Facial and Plastic Surgery, Trousseau Hospital, AP-HP, Paris, France."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Just","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Clinical University, Ulm, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Sznajer","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, St. Luc Clinical University, Brussels, Belgium."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry Billette","family":"De Villemeur","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, AP-HP, Trousseau Hospital, AP-HP, Paris, France, School of Medicine, University Pierre et Marie Curie Paris 6, Paris, 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