Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene PIT X2 (former RIEG) was mapped. To study the natural history and perform a genotype-phenotype correlation, we followed a girl with RS from the age of 1 year to puberty. The study included physical examination, clinical and psychological evaluation, and cytogenetic analysis with GTG-banded karyotype and array CGH. Additionally, molecular analysis using microsatellite markers for chromosome 4 (D4S427, D4S194 and D4S1615) was performed. Conventional chromosome analysis showed a 4q deletion, and aCGH confirmed the determination of the breakpoints at 4q25 and 4q31. With the exception of the typical features of RS is the patient, the clinical manifestations were relatively mild, despite the relatively large size of the deleted chromosome segment. The patient was periodically re-evaluated for several years. The teeth are still abnormal, and she is still under orthodontic treatment. The facial features were attenuated with age. Currently, she is under constant monitoring of eye pressure. She benefited from early intervention program, and her tonus is normal. She attends a normal school with minor learning difficulties. In conclusion, this study offers a comprehensive phenotypic delineation of RS through almost two decades and may contribute to a more accurate genetic counseling in cases of this syndrome.
Summary: 1. Introduction; 2. The model; 3. Data; 4. Results; 5. Conclusion.Keywords: optimal commodity taxation; social welfare function; efficiency; equity; almost ideal demand system. JEL codes: H21; D12; D31; D63; H31; C33.In this study we calculate optimal commodity taxes for Brazil. Simulations are based on the Almost Ideal Demand System (Deaton and Muellbauer, 1980), estimated using Brazilian household data. The trade off between equity and efficiency is taken into account by introducing a government aversion to inequality parameter into a social welfare function, which is maximized subject to a balanced government budget requirement.Our results show that the optimal commodity tax structure is characterized by selective tax rates when the only tax policy instrument available is commodity taxation. We extend the analysis by allowing for a uniform poll payment to be made by the government. In this case tax rates are regressive and poll transfer levels are unreasonably high. When we cap transfers with a binding ceiling the former pattern is restored. Comparing with Siqueira (1998), we have also observed a relative robustness of optimal tax rates to household preferences forms.O presente estudo tem como objetivo calcular a estruturaótima da tributação sobre o consumo no Brasil. As simulações baseiamse no sistema de demanda Almost Ideal Demand System (Deaton and Muellbauer, 1980) trade off entre eqüidade e eficiênciaé incorporado no modelo com a introdução de um coeficiente de aversãoà desigualdade social na função de bem-estar social, sujeitaà restrição de receita do governo. Além da hipótese de que oúnico instrumento de política tributária disponível seja a tributação sobre o consumo, nosso modelo também admite a concessão de uma transferência uniforme lump sum de renda per capita do governo para todos os agentes econômicos.Os resultados mostram que a estrutura tributária sobre o consumo caracteriza-se pela seletividade das alíquotas, que se torna mais significativa para valores altos do parâmetro de aversãoà desigualdade. Este resultadoé revertido para uma estrutura tributária regressiva com a introdução de uma transferência uniforme lump sum de renda do governo para todos os agentes no modelo. Quando tetos bastante restritivos são impostos aos valores das transferências, o primeiro resultadoé restabelecido. Com relaçãoà forma escolhida da preferência do consumidor, nossos resultados também mostram relativa robustez com os obtidos em Siqueira (1998).
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