Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/12499
Type: Artigo de periódico
Title: A clinical study of 31 individuals with midline facial defects with hypertelorism and a guideline for follow-up
Title Alternative: Estudo clínico de 31 indivíduos com defeitos de linha média facial com hipertelorismo e diretrizes para seguimento clínico
Author: Gil-da-Silva-Lopes, Vera Lúcia
Maciel-Guerra, Andréa Trevas
Abstract: 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.
Objetivando contribuir com o delineamento clínico de defeitos de linha média facial com hipertelorismo (DLMFH) e com o diagnóstico etiológico das formas isoladas, foram avaliados 31 indivíduos com DLMFH sem condições clínicas 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 múltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clínico único e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crânio e face (13/14), otorrinolaringológicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiológicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidências 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 são úteis para avaliação e seguimento clínico.
Subject: anomalias craniofaciais
fendas faciais
hipertelorismo
displasia frontonasal
processo frontonasal
seguimento clínico
craniofacial anomalies
facial clefts
ocular hypertelorism
frontonasal dysplasia
frontonasal process
follow-up
Editor: Academia Brasileira de Neurologia - ABNEURO
Rights: aberto
Identifier DOI: 10.1590/S0004-282X2007000300006
Address: http://dx.doi.org/10.1590/S0004-282X2007000300006
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300006
Date Issue: 1-Jun-2007
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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