Six patients with oral-facial-digital syndrome IV: The case for heterogeneity

✍ Scribed by Toriello, Helga V.; Carey, John C.; Suslak, Elaine; Desposito, Franklin R.; Leonard, Bonnie; Lipson, Mark; Friedman, Barbara D.; Hoyme, H. Eugene

• Book ID: 102646994
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 966 KB
• Volume: 69
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970331)69:3<250::aid-ajmg8>3.0.co;2-p

✦ Synopsis

The oral-facial-digital syndromes (OFDS) have in common minor facial and oral anomalies (including tongue lobulation and/ or hamartomas, accessory frenula, and alveolar anomalies) and variable digital defects such as polydactyly. The classification based on the presence of additional findings is not perfect, as many reported examples of a particular OFDS have some other condition. Here we describe six children, all diagnosed as having OFDS IV (OFDS with tibial defects), whose manifestations illustrate the apparent genetic heterogeneity.