A clinical multicenter study of orofacial features in 26 brazilian patients with different types of mucopolysaccharidosis.

PURPOSE: This study aimed to describe the orofacial features of 26 unrelated Brazilian patients with mucopolysaccharidosis and to verify any possible associations between these findings and specific types of mucopolysaccharidosis. METHODS: Patients were diagnosed with mucopolysaccharidosis and clinically evaluated. Following consent, a clinical assessment form was completed. Facial and intraoral examination was performed by evaluating facial pattern, malocclusions, dental caries, and tooth identification. RESULTS: Midface deficiency, increased lower facial third, anterior open bite, convex profile, macroglossia, gingival enlargement, and spaced arches were the most frequently observed features. These findings did not allow a differential diagnosis among the different types of mucopolysaccharidosis, except for pitting enamel, which significantly associated with mucopolysaccharidosis IVA (P < .001). Open bite was associated with mucopolysaccharidosis types I, II, III, and VI; however, only one patient with mucopolysaccharidosis IVA expressed this feature (P = .043). CONCLUSIONS: Our results suggest that pitted enamel in patients with mucopolysaccharidosis is most likely a feature of mucopolysaccharidosis type IVA; whereas, open bite is rarely observed in these patients. Orofacial features in mucopolysaccharidosis may help pediatric dentists recognize this disorder and minimize the delay between the initial signs/symptoms and diagnosis of the disease. Future studies should focus on the longitudinal manifestations, expression, and severity of mucopolysaccharidosis-associated orofacial anomalies.

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.

OBJECTIVES: The aim of this study was to describe clinical features in subjects with palatal abnormalities and to assess the distribution of these features among those with and without 22q11.2 deletion. DESIGN: Descriptive cohort. PATIENTS: One hundred patients with palatal abnormalities and suspicion of 22q11.2 DS were included. METHODS: All patients were evaluated by a clinical geneticist, who completed a standardized clinical protocol. The 22q11.2 deletion screening was performed with fluorescence in situ hybridization using the TUPLE1 probe and multiplex ligation-dependent probe amplification using the P250-A1 kit. RESULTS: The 22q11.2 deletion was detected in 35 patients, in whom the most frequent clinical features were congenital heart disease (15/30 - 50%), developmental delay (19/35 - 54%), speech delay (20/35 - 57%), learning disabilities (27/35 - 77%), immunologic alterations (18/29 - 62%). In addition, the most common facial dysmorphisms in this group were long face (27/35 - 77%), typical nose (24/35 - 69%), and hooded eyelids (19/35 - 54%). Comparing features in patients with or without the deletion revealed significant differences (positively correlated with the deletion) for speech delay, learning disabilities, conductive hearing loss, number of dysmorphisms, long face, and hooded eyelids. Cleft lip and palate was negatively correlated with the deletion. CONCLUSIONS: The presence of speech delay, learning disabilities, conductive hearing loss, long face, and hooded eyelids should reinforce the suspicion of 22q11.2 DS in patients with palatal abnormalities and would help professionals direct clinical follow-up of these patients.

Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.

OBJECTIVE: This study aimed to assess the prevalence of dental findings on panoramic radiographs (PRs) of patients with osteogenesis imperfecta (OI) and correlate these results with epidemiologic and medical data. STUDY DESIGN: A case-control study was conducted with 24 patients with OI and 48 sex- and age-matched controls. Demographic, clinical, and bisphosphonate regimen-related data were recorded. The outcome variables were the presence or absence of dental alterations in PRs. Mann-Whitney U test, Pearson's χ2 test, and multinomial logistic regression analysis (95% confidence interval) were used (significance level of 5%). RESULTS: OI type 4 demonstrated a high prevalence (62.5%), followed by type 1 (37.5%). With regard to prevalence associated with severity, the moderate form was the most prevalent (P = .028). The mean time of intravenous pamidronate regimen was 6.6 ± 4.4 years. Dentinogenesis imperfecta was observed in 75% of patients with OI, and this group showed a high prevalence of dental abnormalities in comparison with controls (P < .05). Bisphosphonate therapy was associated with ectopic teeth (P = .007) and tooth impaction (P = .033). Pulp obliteration was significant with bisphosphonate treatment over a period of 7 years (P = .026). CONCLUSIONS: This study found a significant prevalence of dental alterations in patients with OI, and certain alterations were associated with bisphosphonate therapy, indicating its influence on the dentin-related physiopathology.

Dental treatment before surgery in a patient with cleft lip and palate: case report / Efeito do Cissus quadrangularis na cicatrização de fraturas em animais de laboratório

Introduction: orofacial clefts are common congenital malformations with an important social, psychological, and economic impact. The treatment of this condition may include different surgical procedures that previously require an adequate oral condition. Case report: we report a case of dental treatment before palatoplasty in a male patient of 17 years-old with bilateral cleft lip and palate and lesion in the jugal mucosa. Final considerations: the adequacy of the oral environment is a fundamental step in the treatment of patients with orofacial clefts and aims to restore oral health regardless of the degree of complexity of the dental treatment through the reduction of the pathogenic microbiota, elimination of retentive niches, instructions on diet and adequate oral hygiene and constant patient motivation.

Objetivos: as fissuras orofaciais são malformações congênitas comuns, com importante impacto social, psicológico e econômico. O tratamento dessa condição pode incluir vários procedimentos cirúrgicos que requerem previamente uma adequada condição bucal. Relato de caso: Relatamos o caso de tratamento odontológico prévio a palatoplastia em um paciente do gênero masculino de 17 anos de idade, com fissura transforame incisivo bilateral e lesão em mucosa jugal. Considerações finais: A adequação do meio bucal é uma etapa fundamental no tratamento de pacientes com fissuras orofaciais e visa restabelecer a saúde bucal independente do grau de complexidade do tratamento odontológico por meio da redução da microbiota patogênica, eliminação de nichos retentivos, orientações sobre dieta e higiene bucal adequada e motivação constante do paciente.

Síndrome de Coffin-Siris: relato de caso / Coffin-Siris syndrome: case report

Objetivo: Apresentar o caso clínico de ummenino de 4 anos com Síndrome de Coffin-Siris.Relato do caso: O paciente apresentava retardo decrescimento pós-natal, face grosseira, sobrancelhascheias, nariz alargado, filtro longo, boca larga, criptorquidiae hipoplasia da unha do quinto dedo. Ocariótipo em sangue periférico foi normal, 46 XY.Conclusão: As características clínicas do pacientesão consistentes com o diagnóstico da Síndromede Coffin-Siris, uma doença genética em que hámenos de 100 casos descritos.

Objective: To report the clinical case of 4 yearsold boy with Coffin-Siris syndrome. Case report:The patient presented post natal growth retardation,coarse facies, brushy eyebrows, broad nose, long philtrum,wide mouth, cryptorchidism and hypoplastic 5thfingernails. The blood cariotype was normal, 46XY.Conclusions: The clinical characteristics are consistentwith the diagnosis of Coffin-Siris syndrome, agenetic disorder of which there are less than 100 casesreported.