Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.

Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern is also reported. Here we described 2 families with members affected by ODDD. In the first family, the c.752G>C (p.S251T) and c.848C>T (p.P283L) heterozygous missense mutations and the c.825C>T (p.T275T) silent mutation were identified in the proband, which showed mild ODDD phenotypes, and in his mother, which displayed hemolytic anemia and thrombocytopenia. In the second family, the patients displayed typical features of ODDD, and Sanger sequencing identified a novel homozygous c.604C>T (p.R202C) missense mutation, whereas the parents carried the mutation. Together, these findings suggest that homozygous mutation in GJA1 induces a more severe ODDD phenotype, though interfamilial phenotype variability was observed, whereas compound heterozygous mutations in GJA1 cause a mild phenotype.

First cases of oligodontia as a manifestation of the Zika virus congenital syndrome.

OBJECTIVE: The aim of this study was to characterize the oral alterations in patients with the congenital syndrome caused by Zika virus infection (CZS). STUDY DESIGN: Ten children with CZS from the Association of Mothers of Microcephaly, Montes Claros, Minas Gerais State, Brazil were included. Data collection consisted of an interview with the parents, intraoral examination, and panoramic radiography. RESULTS: Oligodontia was found in 2 children. The first child, a 3-year-old boy, had 12 dental absences (2 primary maxillary lateral incisors, 2 primary mandibular lateral incisors, 2 primary maxillary canines, 1 primary mandibular canine, 1 primary maxillary first molar, 2 primary mandibular second molars, and 2 primary maxillary second molars), and the second child, a 5-year-old boy, showed 15 missing teeth (4 primary central incisors, 1 primary maxillary lateral incisor right, 2 primary mandibular lateral incisors, 2 primary maxillary canines, 1 primary mandibular canine, 1 primary mandibular first molar, and 4 primary second molars). CONCLUSIONS: This study is the first report of oligodontia in Brazilian patients with CZS. Further studies with CZS patients are needed to better understand the occurrence and the association between Zika virus and oligodontia.

Oral medicine (stomatology) in Brazil: the first 50 years and counting.

This review outlines the historical perspective, status, and future challenges of oral medicine (stomatology) in Brazil based on the records of the Brazilian Society of Stomatology and Oral Pathology (SOBEP) and the Brazilian Federal Dental Council as well as expert evidence input from academic leaders from 3 different generations of Brazilian oral medicine specialists. The beginning of oral medicine in Brazil dates to 1969, followed by the organization of SOBEP in 1974; however, official recognition as an independent specialty was achieved more recently within the Brazilian Federal Dental Council in 1992. After a 50-year maturation period of oral medicine in Brazil in terms of specialty crystallization across dentistry, medicine, and research, it is now time to follow the historical trends of the specialty internationally and establish a standard curriculum at a post-graduate level that will lead to uniformity of training for oral medicine in Brazil.

Enamel Renal Syndrome: A Systematic Review.

The enamel renal syndrome (ERS) is a rare autosomal recessive disease that is associated with mutations in the FAM20A gene. The syndrome is characterized by impaired amelogenesis of the hypoplastic type and nephrocalcinosis, presenting with presence of thin or absence of enamel, late dental eruption, intrapulpal calcifications, bilateral nephrocalcinosis, and normal plasma calcium level. The objective is to characterize ERS by systematically literature reviewing, highlighting the main findings of the syndrome to increase knowledge about this condition in the health professionals. The study is a systematic review of the scientific literature, whose research was developed in the PubMed database in March 2018. A total of 69 articles were found. Two authors analyzed their abstracts and selected, according to the language and main subject, 30 articles to write this study. A total of 69 patients were cited in the studies and their data were analysed. There was gender equivalence and the ages ranged from 1 to 64 years old. There is a clear hereditary relation of the syndrome, since there was consanguinity in 18 cases, indicating a percentage of 26.08% and family history in 30 cases (43.47%). Laboratory changes vary greatly from patient to patient and may even remain unchanged. The relationship between the syndrome and the mutation in the FAM20A gene can be proven from the data, since all patients with ERS screened by the mutation were positive. With the advancement of the ERS studies, some associations with the syndrome are suspected, such as the presence of gingival fibromatosis, hearing loss, and hypertrichosis. Thus, it is noticed that the syndrome does not show a predilection for gender or age and there is a strong hereditary character, marked by the consanguinity and family history of the patients. The association with the FAM20A gene is reinforced, since the mutation was identified in all patients analyzed.

Facial features of patients with sickle cell anemia.

OBJECTIVE: To characterize the craniofacial features of patients with sickle cell anemia (SCA). MATERIALS AND METHODS: Fifty patients with SCA in the north of Minas Gerais, Brazil, were evaluated using standardized photographs (front and profile) for a subjective facial analysis and digital radiographs for a computerized cephalometric analysis. To obtain linear and angular measurements, cephalometric points were marked on the digital images by a single examiner, using the program Radiocef 6.0, and facial analyses were performed by four different orthodontists. RESULTS: Of the population studied, 28 patients were female with a mean age of 27.7 years. Most of the patients (64%) had their faces classified as esthetically acceptable, although results showed a predominance of convex profiles (72%). The mean of the SNA angle was 84.56°, diagnosing proper positioning of the maxilla from the base of the skull. The prevalence of pattern II was 32%, and 31% showed maxillary protrusion; the effective length of the maxilla was reduced in 64%. Retrusion of the mandible was observed in 30%, and 76% had reduced mandibular length. Four measurements (mandibular length, maxillary length, anterior face height, and maxillomandibular difference) showed statistically significant differences between genders, where these measurements were higher for males than for females. CONCLUSION: Most patients did not show compensatory maxillary expansion, which was determined by the prevalence of decreased maxillary length (64%) and by the absence of maxillary protrusion in 69% of the SCA patients evaluated.