RESUMO
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally. This patient showed the importance of early diagnosis and HSCT therapy in attenuating the clinical and radiographic oral and craniofacial manifestations of the MPS II patient.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Anormalidades da Boca/etiologia , Mucopolissacaridose II/complicações , Mucopolissacaridose II/terapia , Criança , Humanos , MasculinoRESUMO
Angelman syndrome (AS) is a neurogenetic disorder, characterized by intellectual disability, movement or balance disorders, specific abnormal behaviors, and severe speech and language limitations. Due to its low incidence and the nonspecifity of developmental problems in newborns and young children, AS is not easily identified by clinical pediatricians. The aim of this paper is to present three cases of AS, reporting the orofacial characteristics and requisite dental care in these patients. Interestingly, this investigation found that certain typical features of mouth breathing syndrome, such as long and narrow faces, open mouth, shortened upper lip, lowered mandible position, shadows under the eyes (infraorbital cyanosis), muscular hypotonia, and enlarged and anteriorized tongue, were present in the three studied AS patients.
Assuntos
Síndrome de Angelman/complicações , Assistência Odontológica para a Pessoa com Deficiência , Deficiência Intelectual , Saúde Bucal , Criança , Pré-Escolar , Face/anormalidades , Feminino , Humanos , Lábio/anormalidades , Masculino , Má Oclusão/etiologia , Destreza Motora/fisiologia , Anormalidades da Boca/etiologia , Respiração Bucal/etiologia , Hipotonia Muscular/etiologia , Prognatismo/etiologia , Língua/anormalidades , Adulto JovemRESUMO
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.
Assuntos
Freio Labial/anormalidades , Anormalidades da Boca/patologia , Síndromes Orofaciodigitais/patologia , Anormalidades Dentárias/patologia , Adolescente , Adulto , Criança , Fenda Labial/etiologia , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/etiologia , Feminino , Humanos , Má Oclusão/etiologia , Anormalidades da Boca/diagnóstico por imagem , Anormalidades da Boca/etiologia , Síndromes Orofaciodigitais/diagnóstico por imagem , Radiografia , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adulto JovemRESUMO
OBJECTIVE: The objective of this study was to investigate the prevalence of tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. STUDY DESIGN: Twenty-six patients with velocardiofacial syndrome were examined to investigate the presence of tooth abnormalities and soft tissue alterations. The occurrence of tooth agenesis and supernumerary teeth was compared to patients without morphofunctional alterations, matched for gender and age. RESULTS: Of all patients, 76.92% exhibited at least one tooth abnormality, with predominance of hypoplastic alterations, especially represented by hypodevelopment of the lingual cusp of mandibular first premolars and enamel opacities. The occurrence of tooth agenesis and supernumerary teeth was similar in both study and control groups. CONCLUSION: the present results suggest an association between hypodevelopment of the lingual cusp of mandibular first premolars and enamel opacities, yet these findings still require corroboration. Future studies should further investigate these aspects in larger samples compared to control groups, as well as employing molecular genetics techniques.
Assuntos
Síndrome de DiGeorge/complicações , Anormalidades da Boca/etiologia , Anormalidades Dentárias/etiologia , Adolescente , Adulto , Anodontia/etiologia , Dente Pré-Molar/anormalidades , Estudos de Casos e Controles , Criança , Fissura Palatina/etiologia , Esmalte Dentário/anormalidades , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Palato Duro/anormalidades , Palato Mole/anormalidades , Língua/anormalidades , Coroa do Dente/anormalidades , Dente Supranumerário/etiologiaRESUMO
OBJECTIVE: To evaluate the intraoral features of patients with Apert's syndrome in treatment at the Hospital of Rehabilitation and Craniofacial Anomalies of University of São Paulo (HRAC-USP), a national reference center for treatment of craniofacial anomalies in Brazil. STUDY DESIGN: In this retrospective study, of 56,000 patients registered at HRAC-USP, 36 patients were diagnosed with Apert's syndrome and were either examined or had their medical files evaluated, aiming to characterize lip posture, mouth shape, maxillary hypoplasia, palatal morphology, dental anomalies, and malocclusion. RESULTS: Most patients were characterized as mouth breathers for presenting with hypotonic lips and trapezoidal-shaped mouths. Other frequent findings were the presence of highly arched palates and hypoplastic maxilla, with gingival lateral swellings that increased in size with age. Crowding of teeth and malocclusion were commonly observed, and cases of hypodontia were frequent. Contrary to previous studies demonstrating a high incidence of cleft soft palate, in this study only 1 of 23 patients presented a true cleft. CONCLUSIONS: The intraoral features of patients with Apert's syndrome in the population studied match most of the findings in other populations. However, the occurrence of cleft soft palate was unexpectedly low and morphologically normal teeth were found. In addition, hypodontia was frequently observed. Variations in frequency of observations of some characteristics might be related to differences in sample size or population.
Assuntos
Acrocefalossindactilia/complicações , Anormalidades da Boca/etiologia , Palato Duro/anormalidades , Adolescente , Adulto , Anodontia/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Má Oclusão/etiologia , Maxila/anormalidades , Respiração Bucal/etiologia , Palato Mole/anormalidades , Estudos RetrospectivosRESUMO
Hemifacial hyperplasia is a developmental disorder characterized by a marked unilateral asymmetry. The etiology is unknown, although several factors have been described. It involves not only the hard tissues of the face, but the soft tissues as well. A case report of an adult woman with hemifacial hyperplasia highlighting the clinical significance is presented.
Assuntos
Assimetria Facial/complicações , Anormalidades Maxilomandibulares/etiologia , Anormalidades da Boca/etiologia , Exostose/diagnóstico por imagem , Feminino , Humanos , Hiperplasia , Anormalidades Maxilomandibulares/diagnóstico por imagem , Pessoa de Meia-Idade , Palato Duro/anormalidades , Radiografia , Crânio/anormalidades , Crânio/diagnóstico por imagem , Língua/anormalidadesRESUMO
La epiloia es una enfermedad de origen genético autosómico dominante, con alteración en los cromosomas 9 y 16. El cuadro clínico es característico y los estudios paraclínicos permiten emitir con precisión el diagnóstico. En este estudio fue examinado un paciente de 27 años de edad con este trastorno. Mostró cuadros de epilepsia, retardo mental, calcificaciones intracraneales, angiofibromas faciales y defectos en la estructura dentaria, tales como fosas en el esmalte , además de crecimiento gingival inflamatorio y fibromas múltiples en la mucosa. El diagnóstico fue confirmado mediante interconsulta con los servicios de neurología, dermatología, odontología y genética
Assuntos
Humanos , Masculino , Adulto , Esclerose Tuberosa , Anormalidades da Boca/etiologia , Anormalidades Dentárias/etiologia , Aberrações Cromossômicas , Esmalte Dentário , Epilepsia , Fibroma , Esclerose Tuberosa , VenezuelaRESUMO
The oral findings of 12 patients with Moebius syndrome are described. Facial weakness, hypoplastic upper lip, microstomia, mouth-angle drooping, hypoplasia of mandible, gothic palate, tongue weakness, fissured tongue, tongue atrophy and open bite were found. In addition to describing the oral findings, this report discusses some implications for dental treatment of patients with this syndrome.