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).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.

Clinical manifestations and oral findings in fraser syndrome

This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. Fraser syndrome is a rare recessive autosomal genetic disorder characterized by multisystemic malformation, usually comprising cryptophthalmos, syndactyly, and renal defects. The child presented with: (1) hydrocephaly; (2) face asymmetry; (3) low-inserted ears; (4) flat nose bridge; (5) cryptophthalmos; (6) bilateral absence of eyeballs; (7) hypertelorism; (8) syndactyly on the left fingers and toes; (9) skeletal defects; and (10) lower limb asymmetry. The intraoral examination revealed: (1) complete primary denture; (2) malocclusion; (3) tooth crowding; (4) ogival palate; (5) normal labial frena; (6) absence of lingual frenum (not compromising the tongue movements); (7) parched lips; (8) supragingival calculus adhered to all tooth surfaces; and (9) moderate gingivitis. The dental treatment consisted of periodic monitoring of the patient's oral health status and supragingival scaling associated with topical applications of 0.12% chlorhexidine digluconate gel at 2-week intervals to reduce gingivitis.