Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/198926
Type: Artigo de periódico
Title: Malformations Of Cortical Development In Patients With Midline Facial Defects And Ocular Hypertelorism.
Author: Giffoni, Silvyo David Araújo
Cendes, Fernando
Valente, Marcelo
Gil-da-Silva-Lopes, Vera Lucia
Abstract: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs). We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17 (42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.
Subject: Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Electroencephalography
Face
Female
Humans
Hypertelorism
Infant
Magnetic Resonance Imaging
Male
Malformations Of Cortical Development
Questionnaires
Risk Factors
Citation: The Cleft Palate-craniofacial Journal : Official Publication Of The American Cleft Palate-craniofacial Association. v. 47, n. 4, p. 343-51, 2010-Jul.
Rights: fechado
Identifier DOI: 10.1597/08-167.1
Address: http://www.ncbi.nlm.nih.gov/pubmed/20590457
Date Issue: 2010
Appears in Collections:Unicamp - Artigos e Outros Documentos

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