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      Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography Translated title: Anomalias de sistema nervoso central em defeitos de linha média facial com hipertelorismo detectados por ressonância magnética e tomografia computadorizada

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          Abstract

          The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH) isolated or associated with multiple congenital anomalies (MCA). The investigation protocol included dysmorphological examination, skull and facial X-rays, brain CT and/or MRI. We studied 24 individuals, 12 of them had an isolated form (Group I) and the others, MCA with unknown etiology (Group II). There was no significative difference between Group I and II and the results are presented in set. In addition to the several CNS anomalies previously described, MRI (n=18) was useful for detection of neuronal migration errors. These data suggested that structural CNS anomalies and MFDH seem to have an intrinsic embryological relationship, which should be taken in account during the clinical follow-up.

          Translated abstract

          Este estudo objetivou descrever e comparar as anomalias estruturais do sistema nervoso central (SNC) detectadas por meio de ressonância magnética (RM) e tomografia computadorizada (TC) de crânio em indivíduos com defeitos de linha média facial com hipertelorismo (DLMFH) isolados ou associados a anomalias congênitas múltiplas (ACM). O protocolo de investigação incluiu exame dismorfológico, RX de crânio e face, CT e RM de crânio. Foram estudados 24 indivíduos, sendo que 12 apresentavam a forma isolada (Grupo I) e os demais, DLMFH com ACM de etiologia não esclarecida (Grupo II). Não houve diferença entre os dois grupos e os resultados foram agrupados. Além de várias anomalias de SNC já descritas, a RM foi útil para detecção de erros de migração neuronal. Os dados sugerem que as alterações estruturais de SNC e os DLMFH têm relação embriológica, o que deve ser levado em conta durante o seguimento clínico.

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          Most cited references17

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          Practical nonparametric statistics

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            Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

            Malformations of the craniofacial region are reviewed with respect to evolutionary, embryonic, genetic, and clinical perspectives under the following headings: How Old Is Our Head?, Head Organization Genes, Genetics of Craniofacial Anomalies, Craniofacial Derivatives, Anencephaly, Cephalocele, Holoprosencephaly, Craniosynostosis, Hypertelorism, Branchial Arch Anomalies, and Orofacial Clefting. Copyright 2002 Wiley-Liss, Inc.
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              Frontonasal malformation as a field defect and in syndromic associations.

              Several new "syndromes" have been described that have in common facial findings identical or similar to those seen in frontonasal malformation (FNM), previously termed frontonasal dysplasia. Some of those new syndromes are inherited, whereas FNM is an isolated finding. Thus there is a need for differentiation among those conditions. A review of the literature was undertaken to identify and classify the various reports that describe FNM as it occurs alone and in association with a syndrome.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Journal
                anp
                Arquivos de Neuro-Psiquiatria
                Arq. Neuro-Psiquiatr.
                Academia Brasileira de Neurologia - ABNEURO (São Paulo )
                1678-4227
                December 2006
                : 64
                : 4
                : 916-920
                Affiliations
                [1 ] Departamento de Genética Médica Brazil
                Article
                S0004-282X2006000600005
                10.1590/S0004-282X2006000600005
                e345e3b5-ee80-4442-8ada-115b574fad34

                http://creativecommons.org/licenses/by/4.0/

                History
                Product

                SciELO Brazil

                Self URI (journal page): http://www.scielo.br/scielo.php?script=sci_serial&pid=0004-282X&lng=en
                Categories
                NEUROSCIENCES
                PSYCHIATRY

                Neurosciences,Clinical Psychology & Psychiatry
                facial clefts,frontonasal dysplasia,midline,craniofacial abnormalities,CNS abnormalities,magnetic resonance image,displasia frontonasal,hipertelorismo,linha média,malformações craniofaciais,fendas faciais,malformações do SNC,ressonância magnética,hypertelorism

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