4 research outputs found
Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences
PMCID: PMC3566971This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up Estudo clĂnico de 31 indivĂduos com defeitos de linha mĂ©dia facial com hipertelorismo e diretrizes para seguimento clĂnico
In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.<br>Objetivando contribuir com o delineamento clĂnico de defeitos de linha mĂ©dia facial com hipertelorismo (DLMFH) e com o diagnĂłstico etiolĂłgico das formas isoladas, foram avaliados 31 indivĂduos com DLMFH sem condições clĂnicas definidas. O Grupo A constituiu-se de pacientes examinados pessoalmente e o Grupo B, inicialmente, por outro geneticista. Entre os 14 pacientes do Grupo A, detectou-se 7 novos quadros de anomalias mĂşltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clĂnico Ăşnico e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crânio e face (13/14), otorrinolaringolĂłgicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiolĂłgicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidĂŞncias de envolvimento de fatores ambientais em parte dos casos de formas isoladas de DLMFH, devendo-se atentar para a possibilidade de um quadro distinto de AM. Todas as investigações realizadas sĂŁo Ăşteis para avaliação e seguimento clĂnico