OBJECTIVE: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). DESIGN: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated. RESULTS: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined. CONCLUSIONS: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.
OBJECTIVE: To evaluate the oral features in individuals with oral-facial-digital syndrome type 1 (OFD 1), previously diagnosed by the Genetic Sector of the Hospital of Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). DESIGN: Twelve patients with OFD 1 were examined clinically and radiographically; their medical files were also evaluated. RESULTS: Associated oral malformations were observed in all patients (100%). The most frequent findings were tongue hamartomas, multiple buccal frena, asymmetric lips, asymmetric tongue, and bilateral maxillary gingival swelling. Interestingly, atrophy of the maxillary midline frenum was also observed in all the individuals examined. CONCLUSIONS: Several extra and intraoral alterations were observed in patients with OFD 1. The authors suggest the inclusion of atrophy of the maxillary midline frenum as a commonly found characteristic of OFD 1.
Authors: Jacqueline M Tabler; William B Barrell; Heather L Szabo-Rogers; Christopher Healy; Yvonne Yeung; Elisa Gomez Perdiguero; Christian Schulz; Basil Z Yannakoudakis; Aida Mesbahi; Bogdan Wlodarczyk; Frederic Geissmann; Richard H Finnell; John B Wallingford; Karen J Liu Journal: Dev Cell Date: 2013-06-24 Impact factor: 12.270