Objetivo: Investigar a prevalência de disgenesias dentárias em indivíduos com síndrome Richieri-Costa-Pereira. Material e Métodos: 13 indivíduos, registrados no Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (HRAC-USP), Bauru Brasil, com síndrome Richieri-Costa-Pereira, de ambos os gêneros, de etnia branca, acima de oito anos de idade e com pelo menos uma radiografia panorâmica disponível. As disgenesias dentárias foram avaliadas clinica e radiograficamente, por uma única examinadora, e foram classificadas como alterações hiperplasiantes, hipoplasiantes e heterotópicas e como alterações de forma, número, posição e estrutura, sendo as alterações de esmalte classificadas pelo índice de Defeitos de Desenvolvimento do Esmalte (DDE) e descritas com relação à face dentária afetada. Antes da coleta de dados, foi realizado estudo piloto para avaliação da concordância intra-examinador quanto à presença de agenesias dentárias e dentes supranumerários. Resultados: Todos os indivíduos (100%) apresentavam pelo menos uma disgenesia dentária, com predominância de alterações hipoplasiantes, principalmente representadas por agenesias dentárias dos incisivos e segundos pré-molares inferiores e opacidades de esmalte de coloração branco-creme, demarcada, afetando principalmente os pré-molares superiores seguidos dos molares inferiores, com predominância de alterações na face vestibular. Conclusão: Indivíduos com síndrome Richieri-Costa Pereira apresentam alta prevalência de agenesias dentárias, principalmente incisivos e pré-molares inferiores, bem como alta freqüência de opacidades de esmalte. Estes achados são compatíveis com a fissura mandibular presente em todos os indivíduos e refletem também a característica hipoplasiante da síndrome. / Objective: To investigate the prevalence of tooth abnormalities in individuals with Richieri-Costa-Pereira syndrome. Material and Methods: 13 individuals registered at the Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo (HRAC-USP), Bauru, Brazil, with Richieri-Costa-Pereira syndrome, of both genders, Caucasoid, aged more than eight years and with at least one panoramic radiograph available in the hospital files. The tooth abnormalities were evaluated clinically and radiographically by a single examiner and were classified as hyperplastic, hypoplastic or heterotopic alterations and as alterations of shape, number, position and structure. The enamel alterations were classified by the DDE index and described according to the tooth surface affected. Before data collection, a pilot study was conducted to evaluate the intraexaminer agreement as to the presence of tooth agenesis and supernumerary teeth. Results: All individuals (100%) presented at least one tooth abnormality, with predominance of hypoplastic disorders, mainly including agenesis of mandibular incisors and second premolars, as well as demarcated creamy-white enamel opacities, primarily affecting the maxillary premolars, followed by mandibular molars, mainly affecting the buccal surface. Conclusion: Individuals with Richieri-Costa Pereira syndrome present high prevalence of tooth agenesis, especially mandibular incisors and premolars, as well as high frequency of enamel opacities. These findings are compatible with the mandibular cleft observed in all individuals and also reflect the hypoplastic characteristic of the syndrome.

Orofacial clefts are frequent congenital anomalies. A combination of genetic and environmental factors contributes to their formation. Orofacial clefts together with growth retardation belong among the indicators of embryo toxicity. This thesis is focused on the potential relationship between birth weight and orofacial clefts of newborns born in Czech Republic. The non-syndromic cleft lip, cleft lip and palate, isolated cleft palate and patients with Pierre-Robin sequence are discussed here. Evaluation of the relationship between the birth weight and orofacial clefts was performed on the base of statistical analysis. The differences were tested in children with different types of orofacial clefts and in cleft patients compared to healthy control. Statistical analysis of variance demonstrated that the type and severity of the cleft (unilateral/ bilateral) does not affect birth weight of newborns with orofacial clefts. Newborns with non-syndromic clefts had reduced birth weight in comparison to healthy controls. Cleft patients with Pierre-Robin sequence (syndromic form of cleft) did not differ in birth weight from healthy children. To verify the results obtained in patients with orofacial clefts that the birth weight is lower in these patients compared to control, two experiments on a chicken model...

Clefts of orofacial komplex are the most common birth development defects. One of them is Pierre Robin sequence, which is characterized by presence of micrognathia, glossoptosis and upper airway obstruction. Because of these symptoms, isolated cleft palate "U" or "V" shaped can be part of the diagnose. Other clinical manifestations are feeding difficulties, obstructive sleep apnea syndrome and / or gastroesophageal reflux disease. The aim of the treatment is to secure the airway and the child's thriving after birth by using conservative or invasive treatment methods. Choosing of methods and procedures should be established by multidisciplinary cooperation. The other part of diploma thesis is trying to find out, which clinical manifestation are the most common in patients from the Czech Republic compare to foreign patients and the differences in management of the treatment. Furthermore we are trying to investigate, whether there is higher percentage of patients with delayed neuromotor development among PRS patients, which are under physical therapy. The last part is trying to find out the relationship between the poor posture and PRS diagnose in children age 4 - 6 years.