Anomalias dentárias associadas: o ortodontista decodificando a genética que rege os distúrbios de desenvolvimento dentário

O presente trabalho versa sobre o diagnóstico e a abordagem ortodôntica das anomalias dentárias, enfatizando os aspectos etiológicos que definem tais irregularidades de desenvolvimento. Parece existir uma inter-relação genética na determinação de algumas dessas anomalias, considerando-se a alta frequência de associações. Um mesmo defeito genético pode originar diferentes manifestações fenotípicas, incluindo agenesias, microdontias, ectopias e atraso no desenvolvimento dentário. As implicações clínicas das anomalias dentárias associadas são muito relevantes, uma vez que o diagnóstico precoce de uma determinada anomalia dentária pode alertar o clínico sobre a possibilidade de desenvolvimento de outras anomalias associadas no mesmo paciente ou em outros membros da família, permitindo a intervenção ortodôntica em época oportuna.

MMP1 and MMP20 contribute to tooth agenesis in humans

Objective: Variations in genes that are critical for tooth formation may contribute to the tooth agenesis. MMPs are potential candidate genes for dental alterations based on the roles they play during embryogenesis. The aim of this study was to investigate the possible association between MMP1, MMP3, and MMP20 and tooth agenesis. Methods: One hundred sixty-seven nuclear families from two different populations were analysed, 116 from Brazil and 51 from Turkey. Probands had at least one congenitally missing tooth. DNA samples were obtained from blood or saliva samples and genotyping was performed using TagMan chemistry. In addition, Mmp20 was selected for quantitative real-time polymerase chain reaction analysis with SYBR Green I Dye in mouse tooth development. Results: Associations between tooth agenesis and MMP1 (p = 0.007), and MMP20 (p = 0.03) were found in Brazilian families. In the total dataset, MMP20 continued to be associated with tooth agenesis (p = 0.01). Mmp20 was not expressed during the initial stages of tooth development. Conclusion: Our findings provide evidence that MMP1 and MMP20 play a role in human tooth agenesis. (C) 2010 Elsevier Ltd. All rights reserved.

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the proteolytic N-end rule pathway. Herein, we review previously reported (n = 29) and a total of 31 novel UBR1 mutations in relation to the associated phenotype in patients from 50 unrelated families. Mutation types include nonsense, frameshift, splice site, missense, and small in-frame deletions consistent with the hypothesis that loss of UBR1 protein function is the molecular basis of JBS. There is an association of missense mutations and small in-frame deletions with milder physical abnormalities and a normal intellectual capacity, thus suggesting that at least some of these may represent hypomorphic UBR1 alleles. The review of clinical data of a large number of molecularly confirmed JBS cases allows us to define minimal clinical criteria for the diagnosis of JBS. For all previously reported and novel UBR1 mutations together with their clinical data, a mutation database has been established at LOVD.

Oral findings in Midline Syndrome: a case report and literature review

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital conditions, dental anomalies have only rarely been mentioned when reporting midline syndromes. These dental phenotypical traits, present in the patient and her family, could be considered part of the midline syndrome in carriers as well as in the patients.

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Ellis-Van Creveld Syndrome. Case report and literature review

Ellis-van Creveld syndrome is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The orofacial manifestations include multiple gingivolabial musculofibrous fraenula, dental anomalies, hypodontia and malocclusion. The disease can be diagnosed at any age, even during pregnancy. The differentiation should be made between Jeune syndrome and other orofaciodigital syndromes

Avaliação da saúde bucal e anomalias dentárias em pacientes tratados com leucemia na infância e adolescência

Objetivo: o objetivo deste estudo foi avaliar as condições de saúde bucal e a ocorrência de anomalias dentárias em crianças tratadas para leucemia linfoblástica aguda (LLA) no Serviço de Oncologia Pediátrica (SOP) do Hospital de Clínicas de Porto Alegre (HCPA), comparadas com um grupo crianças saudáveis. Amostra: foram selecionadas 56 crianças com diagnóstico de LLA e analisadas as presenças de anomalias dentárias e os índices CPO-D (cariado, perdido, obturado-dente), IPV (índice de placa visível), ISG (índice de sangramento gengival) e fluxo salivar. As crianças tratadas apresentaram uma média de idade, na época do diagnóstico da LLA, de 5,3 ± 2,6, e 11,8 ± 4,2 na avaliação, sendo 32 masculinos e 24 femininos. Os pacientes tratados para LLA foram divididos em três grupos: crianças tratadas somente com quimioterapia, com quimio e radioterapia, e com quimio, radio e transplante de medula óssea. Resultados: os resultados revelaram 80,4% de anomalias dentárias nas crianças tratadas, ou seja, 45 destas apresentaram pelo menos uma alteração, e o grupo de pacientes tratados com quimio, radio e submetidos ao transplante de medula óssea foi o que revelou a maior média de anormalidades dentárias por indivíduo (15,37 ± 15,03), não ocorrendo diferença estatística entre os gêneros. As crianças tratadas para LLA obtiveram CPO-D de 1,9 ± 4,0, ISG de 26,5%, IPV de 72,0%, e índice de fluxo salivar médio de 0,19 mL/min criança. Já o grupo de crianças sadias apresentou CPO-D de 1,52 ± 3,5, ISG de 11,1%, IPV de 53,8% e índice de fluxo salivar médio de 0,27 mL/min. Conclusão: o tratamento para a cura da LLA provoca um aumento significativo no número de anomalias dentárias, sendo mais freqüente nos pacientes menores de cinco anos de idade, principalmente nos pacientes submetidos a quimio e radioterapia associadas ao transplante de medula óssea, o que requer, por parte do cirurgião-dentista, intervenções clínicas diferenciadas e cuidadosas nestes pacientes, tendo-se em vista também os índices aumentados de ISG e IPV. As alterações sofridas pelas glândulas salivares durante o tratamento não são permanentes sob o aspecto do fluxo salivar, que retorna à normalidade. A orientação e o acompanhamento adequados destes pacientes por parte da equipe de saúde bucal podem mantê-los com o índice de CPO-D dentro dos padrões preconizados pela Organização Mundial de Saúde.

Prevalência de oclusopatias e caracteríticas cefalométricas e dentais de escolares cearense da cidade de Fortaleza

The people of Ceará state are descended from miscegenation between the Portuguese colonizers and the native population, resulting in a different facial pattern from other populations. It is important that this pattern be thoroughly understood, along with its minimum and maximum values so that they can be assessed and respected, allowing professionals who deal with the craniofacial complex to work more efficiently and scientifically. Aim: To characterize the morphological pattern of individuals from Ceará state, whose father and grandfather are also native from Ceará, in the 10-12 year age group, not submitted to previous orthodontic treatment, in order to determine: 1) the prevalence of occlusal pattern; 2) the prevalence of dental anomalies (DA) and, 3) the skeletal and dental cephalometric characteristics of individuals that present with normal occlusion and harmonious facial pattern. Methodology: A list of 10-12 year-olds was obtained from 515 schools containing 162,713 students (Education Secretariat of Ceará State), from which 234 individuals were examined (107 boys and 157 girls). The assessment criteria adopted were: 1) Angle s Classification System to determine occlusal pattern. The occlusal characteristics were measured through overbite, overjet, crowding and interincisal diastema. 2) DA are anomalies of number, shape, size, eruption and structure and, 3) in the group that presented with normal occlusion, we used cephalometric analysis measures proposed by Downs, Steiner, Tweed, Holdaway, Jacobson and McNamara. Results: 1) 25.8% of the schoolchildren had normal occlusion, 47.5% class I malocclusion, 22.3% class II malocclusion and 4.2% class III malocclusion. No statistically significant difference was found between the age group studied and sex. Thirty percent of the individuals had normal overbite, while 36.7% and 19.7% had increased and reduced overbite, respectively. Normal overjet was found in 33.7% of the individuals, increased overjet in 50% and reduced in 16.3%. Dental crowding was observed in 62.5% of the individuals and the presence of interincisal diastema in 14.8%. 2) The prevalence of DA was 56.1%, 6.8% in the number, 10.8% in shape, 4.1% in size, 34.5% in eruption, 26.4% in structure and 17.4% had more than one DA. No association was found between DA and sex, but DA was significantly associated to malocclusion (p<0.05); 3) there was no association between sex or facial type between the measures of nasal-labial angle, position and effective maxillary length, effective mandibular length and the sagittal relationship between the molars, overjet and overbite, position of upper incisors, lower incisors and between the incisors themselves. There was a difference between sex, on the VERT index and in lower anterior facial height, upper incisor inclination and line-H, between facial types for the occlusal plane angles, mandibular plane, facial axis, lower incisor inclination, mandibular position, upper incisor position, lower anterior facial height, ANB and line-H. It was concluded that: 1) the most prevalent occlusal type was class I malocclusion, with no distinction for sex or age group, and the assessment of occlusal characteristics showed that excessive overbite and overjet were the most predominant findings, along with a high occurrence of tooth crowding; 2) a high prevalence of DA was found, particularly eruption anomalies, not influenced by sex but significantly associated to malocclusion and 3) individuals from Ceará are predominantly brachyfacial, exhibiting a number of similarities inherent to their facial pattern, such as a convex profile, retracted jaw, reduced lower third and protruded lower incisors. This study was multidisciplinary, involving researchers from the areas of epidemiology, radiology and dentistry, thereby meeting the multidisciplinarity requirements of the Postgraduate Program in Health Sciences

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Moebius Syndrome: Clinical Manifestations in a Pediatric Patient

Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved. (Pediatr Dent 2009;31:289-93) Received March 8, 2008 vertical bar Lost Revision July 22, 2008 vertical bar Revision Accepted July 28, 2008

Conservative management of a dentigerous cyst secondary to primary tooth trauma

Pulp necrosis is a commonly observed sequela in traumatized primary teeth and is one of the possible etiologic factors for the development of dentigerous teeth. This article reports the case of a dentigerous cyst associated with the germ of a permanent maxillary central incisor that developed secondary to trauma to the predecessor primary incisor. The therapeutic approach included endodontic treatment of the primary tooth and marsupialization of the lesion. After 36 months of follow up, the permanent incisor presented with normal physiologic conditions, absence of dental anomalies and erupted in its correct position in the oral cavity. In conclusion, with proper case selection, marsupialization might be a good treatment option for conservative management of dentigerous cysts.

Aspectos clínicos y morfológicos de los dientes supernumerarios

The hyperdontia teeth is an anomaly of unknown cause, characterized by increased numbers of teeth. It occurs more frequently in the maxilla, preferably in males, and is more common in permanent dentition. The presence of supernumerary teeth can be responsible for alterations in the permanent dentition, such as the delay in the eruption and dislocations. In addition, the patient may have abnormal occlusion, resorption of adjacent teeth and cyst formation. This article describes in a male patient, 9 years old, the presence of two upper right lateral incisor and one upper left lateral incisor, permanent, partially erupted. Radiological examination revealed a second left upper lateral incisor, unerupted. It should be noted that both, in the region of the 1.2 as in 2.2, the teeth showed normal anatomy and not the conoid appearance commonly observed in supernumerary teeth. In our case, in order to perform orthodontic treatment surgical removal of the teeth noted above was indicated.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

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Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: A case report

Introduction. Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women. Although dermatologic manifestations are among the most important aspects for the diagnosis of the syndrome, they are less damaging to the patient and do not require treatment. However, oral involvement characterized by hypodontia of deciduous and permanent teeth is important for the diagnosis and treatment of the patient. Case presentation. We report the case of a 3-year-old girl with ophthalmologic and neurologic disturbances, cutaneous manifestations and hypodontia. Since the patient did not present more damaging manifestations such as neurologic and/or ophthalmologic problems, her most severe complications were related to dental anomalies. The importance of integrated dental treatment, which combines pediatric dentistry, orthodontics and conventional prosthesis, is emphasized. Conclusion. Hypodontia is a frequent finding in incontinentia pigmenti, and dentists should be aware of this condition in order to help with the diagnosis. © 2009 Kitakawa et al; licensee BioMed Central Ltd.

Variações de normalidade e patologias bucais em crianças com deficiência, assistidas em um Centro Odontológico Especializado do Brasil

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