Facial Profile Evaluation of Isolated Pierre Robin Sequence

Objective: To evaluate numerically the facial profile of children with isolated Pierre Robin sequence (PRS) and to compare them with a control group that has no pathologies and exhibits regular and balanced facial growth, with no skeletal alterations. Patients: Eighty-three children aged 5 to 10 years (PRS group, n = 60; control group, n = 23) were selected. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo (HRAC-USP). Children from the control group were taken from the program of Interceptive Orthodontics at HRAC-USP. Design: Angular and ratio analyses of the facial profiles in both groups were realized through digital photographs. The PRS group was subdivided into two groups-complete and incomplete-according to the sagittal extension of the cleft palate, to investigate the possible influence of cleft extension on the face. Results: The facial convexity angle and the facial inferior third angle were considerably higher in the PRS groups than in the control group and were not significantly different between PRS groups. Nasolabial angle did not differ between groups. Conclusion: The facial profile was more convex in individuals with PRS than in those with regular facial growth and with no pathology. The mandible was responsible for the convexity of the profile in PRS because of its lack off anterior projection. An important relationship between the extension of the cleft palate and alterations in facial profile in PRS was not observed.

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. The clinical variability has been ascribed to quantitative effect of mutations of the sulfate transporter activity. Here we describe two Brazilian sisters, born to healthy and non consanguineous parents, with Robin sequence, mild shortening of upper and lower limbs, brachymetacarpalia/tarsalia, additional and accelerated carpal ossification, marked genu valgum, and multiple epiphysial dysplasia. This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26?+?2T>C), and R279W. This combination of mutations has been observed in individuals with different phenotypes, including DTD, DTD variant, and rMED. The distinct phenotype of our cases reinforces the hypothesis that other factors may be influencing the phenotype as previously suggested.

Desempenhos neuropsicológicos em um caso com sequência de Robin

Objetivo: Caracterizar os desempenhos neuropsicológicos de um caso com sequência de Robin. Método: Participou um sujeito com 11 anos e 11 meses, sexo masculino, com Sequência de Robin e fissura completa de palato e queixa de baixo aproveitamento acadêmico. Foram utilizados: Matrizes Progressivas Coloridas, Teste Gestaltico Bender, Escala de Inteligência para Crianças - WISC III; Wisconsin Card Sorting Test-WCST, Teste de Atenção Visual-Tavis-4. Resultados: O raciocínio espaço-temporal lógico apresentou-se na média para a idade. A análise das funções cognitivas para a aprendizagem revelou desempenhos com classificação na média em escalas verbal (QIV=112), execução (QIE=99) e global (QIT=106). No entanto, apresentou desempenhos inferiores em tarefas com sobrecarga, que exigiam atenção sustentada, agilidade e flexibilidade mental, memória de trabalho visual e gerenciamento de estratégias para resolução de problemas. O desempenho em provas perceptivas visiomotoras foi inferior ao esperado, compatível a oito anos de idade, com evidentes dificuldades na construção de ângulos, organização espacial e posição relativa. As habilidades de atenção mostraram-se preservadas em provas de sustentadas e alternadas; naquelas envolvendo a atenção seletiva, cujo estímulo exigiu capacidade de rastreamento e velocidade da resposta, o desempenho foi significativamente inferior ao esperado para a idade. Conclusão: Apesar do nível intelectual satisfatório, a avaliação evidenciou déficits neuropsicológicos importantes interferentes na aprendizagem, tais como, a atenção, memória de trabalho, percepção visomotora e gerenciamento executivo. Estes achados justificam os prejuízos do sujeito em atividades acadêmicas que envolvem as habilidades de leitura, escrita e aritmética.