Malformations Of Cortical Development In Patients With Midline Facial Defects And Ocular Hypertelorism

dc.creatorGiffoni S.D.A.
dc.creatorCendes F.
dc.creatorValente M.
dc.creatorGil-da-Silva-Lopes V.L.
dc.date2010
dc.date2015-06-26T12:36:46Z
dc.date2015-11-26T15:26:51Z
dc.date2015-06-26T12:36:46Z
dc.date2015-11-26T15:26:51Z
dc.date.accessioned2018-03-28T22:35:31Z
dc.date.available2018-03-28T22:35:31Z
dc.identifier
dc.identifierCleft Palate-craniofacial Journal. , v. 47, n. 4, p. 343 - 351, 2010.
dc.identifier10556656
dc.identifier10.1597/08-167.1
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-77954327396&partnerID=40&md5=7ac916ee1fe150f0cdefea5baeab2952
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/91127
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/91127
dc.identifier2-s2.0-77954327396
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1261206
dc.descriptionObjectives: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). Methods: 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). Results: 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. Conclusion: 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.
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dc.description343
dc.description351
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dc.languageen
dc.publisher
dc.relationCleft Palate-Craniofacial Journal
dc.rightsfechado
dc.sourceScopus
dc.titleMalformations Of Cortical Development In Patients With Midline Facial Defects And Ocular Hypertelorism
dc.typeArtículos de revistas


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