Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.
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).


METHODS
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.
Tagliani
Marcela Martini
MM
Pediatric Dentistry Sector, FOAr/UNESP, Bauru, SP, Brazil.
Gomide
Marcia Ribeiro
MR
Carrara
Cleide Felício Carvalho
CF
D000293:Adolescent; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000209:etiology; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000209:etiology; D005260:Female; D006801:Humans; D007742:Labial Frenum / Q000002:abnormalities*; D008310:Malocclusion / Q000209:etiology; D009056:Mouth Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D009958:Orofaciodigital Syndromes / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D055815:Young Adult