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In this case of twin girls, buccal exploration, cephalometric examination, and genetic analysis were performed to diagnose Orofaciodigital I or Orofaciodigital II syndrome. Clinically, the twins had several dental and skeletal irregularities. Genetic analysis revealed a DNA segment abnormality corresponding to exon 3 and presence of nucleotide change, 243C&gt;G, leading to the missense mutation H81Q. This causative mutation associated with the OFD1 gene has not been reported previously. Both patients were diagnosed as having Orofaciodigital I syndrome.<\/jats:p>","DOI":"10.1597\/06-225.1","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T15:03:43Z","timestamp":1194620623000},"page":"660-666","source":"Crossref","is-referenced-by-count":11,"title":["Buccal Anomalies, Cephalometric Analysis and Genetic Study of Two Sisters with Orofaciodigital Syndrome Type I"],"prefix":"10.1177","volume":"44","author":[{"given":"Mart\u00edn","family":"Romero","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry and Orthodontics, Rey Juan Carlos University, Madrid, Spain."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunella","family":"Franco","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Department of Pediatrics University, Naples, Italy."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime S\u00e1nchez","family":"del 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