Navegando por Palavras-chave "apnéia obstrutiva do sono"
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- ItemAcesso aberto (Open Access)Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities(Academia Brasileira de Neurologia - ABNEURO, 2006-09-01) Tengan, Célia Harumi [UNIFESP]; Antunes, Antonio C. [UNIFESP]; Bauab, José R. [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Manzano, Gilberto Mastrocola [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.
- ItemAcesso aberto (Open Access)Mouth breathing children have cephalometric patterns similar to those of adult patients with obstructive sleep apnea syndrome(Academia Brasileira de Neurologia - ABNEURO, 2009-09-01) Juliano, Maria Ligia [UNIFESP]; Machado, Marco Antonio Cardoso [UNIFESP]; Carvalho, Luciane Bizari Coin de [UNIFESP]; Prado, Lucila Bizari Fernandes do [UNIFESP]; Prado, Gilmar Fernandes do [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)OBJECTIVE: To determine whether mouth breathing children present the same cephalometric patterns as patients with obstructive sleep apnea syndrome (OSAS). METHOD: Cephalometric variables were traced and measured on vertical lateral cephalometric radiographs. The cephalometric measurements of 52 mouth and 90 nose breathing children were compared with apneic patients. The children had not undergone adenoidectomy or tonsillectomy and had not had or were not receiving orthodontic or orthopedic treatment. RESULTS: Mouth breathing children showed same cephalometric pattern observed in patients with OSAS: a tendency to have a retruded mandible (p=0.05), along with greater inclination of the mandibular and occlusal planes (p<0.01) and a tendency to have greater inclination of the upper incisors (p=0.08). The nasopharyngeal and posterior airway spaces were greatly reduced in mouth breathing children, as observed in patients with apnea (p<0.01). CONCLUSION: Mouth breathing children present abnormal cephalometric parameters and their craniofacial morphology resembles that of patients with OSAS.