Richieri-Costa and Pereira syndrome is a rare autosomal recessive disorder characterized specially by Pierre Robin sequence with cleft mandible and limb anomalies. There are a typical laryngeal anomaly which encompass short and round larynx, absent or abnormal epiglottis, and abnormal aryepiglottic folds. Most patients reported were from Brazil. We describe a brother and sister with Richieri-Costa and Pereira syndrome on another Brazilian family documenting their physical findings and laryngeal defects. We also review the literature and discuss the main clinical characteristics and etiology.

Introduction Obesity is one of the main public health problem worldwide and it has a negative short- and long-term relationship with women's health. Assessment of this disorder is essential, as is a body composition assessed by dual-energy X-ray absorptiometry (DXA) with the new region of interest as the neck. Objective To verify the association between abdominal and neck fat with sleep quality in obese women. Methods The sample, obtained from a Biomedical Engineering and Health Program database, was characterized by being obese female aged between 20 and 65 years. The tests performed were anthropometric assessment, sleep quality questionnaire, physical activity level, nutritional assessment, and body composition by dual-energy X-ray absorptiometry (DXA). For statistical analysis, the Shapiro-Wilk test, t test for independent samples, Kendall's Tau, linear and multiple regression and ROC curve were used. Results The sample consisted of 15 individuals with a mean age of 45 ± 11.10 years, neck circumference of 41.50 ± 2.61 and abdominal circumference of 128.20 ± 11.62. We found no correlation between the regions of interest and the sleep quality questionnaire. Regression analysis shows non-significant statistical values for abdominal fat. The statistical test proved that the new region of interest in abdominal fat is closer to better sensitivity and has a greater relationship with sleep quality. Conclusion there was no statistically significant correlation between the regions of interest and the sleep quality questionnaire. However, the abdominal fat region of interest was the point that presented the best association with sleep quality assessed by the Pittsburgh questionnaire.

OBJETIVO: Analisar a relação de distúrbios do sono com diferentes critérios de avaliação da composição corporal, da escala de dor e da qualidade de vida em sujeitos com fibromialgia (FM).MÉTODOS: Fizeram parte do estudo mulheres diagnosticadas com FM. A avaliação incluiu: Questionário de Impacto da Fibromialgia na qualidade de vida (FIQ), Escala visual analógica (EVA), Índice de Qualidade do Sono de Pittsburgh (PSQI) e Absorciometria de Raios-X de Dupla Energia (DXA). A composição corporal foi avaliada pelo índice de massa corporal (IMC), percentual de gordura total (%G) e índice de massa gorda (fat mass index – FMI). A análise estatística deu-se por medidas de posição e dispersão. Também foi aplicado teste de correlação e o teste chi-quadrado para verificar a associação entre as variáveis.RESULTADOS: Foram avaliadas 44 mulheres. A média da idade das participantes foi de 51,48±8,94 anos. A partir do DXA, 59,1% da amostra foi classificada com sobrepeso e 40,9% com obesidade. Para o questionário PSQI, 95,5% apresentaram classificação para sono ruim. Para o FIQ, o valor médio encontrado foi de 67,78±15,13 pontos. A análise chi-quadrado dos indicadores de qualidade de sono indicou que pacientes de FM com FMI elevado tendem a apresentar piora do sono (X²=4,565; p=0,033).CONCLUSÕES: Verificou-se que a gordura corporal avaliada a partir do %G e do FMI apresentou correlação significativa com a piora na qualidade do sono. Indivíduos com os maiores escores de PSQI foram significativamente associados a maiores escores de FIQ e de FMI.