Clinical profile of children with down syndrome treated in a genetics outpatient service in the southeast of Brazil

• Autor(a) principal: Pavarino Bertelli,Érika Cristina
• Data de Publicação: 2009
• Outros Autores: Biselli,Joice Matos, Bonfim,Daiana, Goloni-Bertollo,Eny Maria
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista da Associação Médica Brasileira (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0104-42302009000500017
• topic: Down syndrome; Phenotype; Physical Examination

OBJECTIVE: Considering that studies about the frequencies of phenotypic features of Down syndrome (DS) in the Brazilian population with large ethnic variability are scarce in literature, this study analyzed clinical and demographic characteristics of DS children from the Southeastern region of Brazil. METHODS: Sixty-two DS children with free trisomy 21 were evaluated by physical examination using reference values that considered the children´s gender and age at their presentation. Data about clinical complications were collected by retrospective analysis of the children's medical records and/or information supplied by their mothers. Statistical analysis was performed using Likelihood Ratio Test, with significance level less or equal to 5%. RESULTS: Clinical features observed in more than 90% of the individuals were flat facial profile, brachycephaly, slanted palpebral fissures, hypotonia at birth and flat nasal bridge. Congenital heart disease was present in 56.5% of the cases, verbal language acquisition disorder in 87%, and global delayed development in 77.8%. CONCLUSION: The comparison between our data and related literature showed a great variability of the phenotype features frequencies of DS among studies. Besides environmental factors, this can reflect individual as well as population characteristics.