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Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
(WILEY-BLACKWELLHOBOKEN, 2012)
We describe a girl with a phenotype characterized by frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies who presents a 46,XX,r(21) karyotype. Array-comparative genomic hybridization using the ...
Frontonasal Dysplasia, Severe Neuropsychological Delay, and Midline Central Nervous System Anomalies: Report of 10 Brazilian Male Patients
(WILEY-LISS, 2009)
Here we report on 10 male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and severe central nervous system involvement. Imaging studies disclosed absence of the ...
Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography
(Assoc Arquivos De Neuro- PsiquiatriaSao Paulo SpBrasil, 2006)
Malformations of Cortical Development in Patients With Mid line Facial Defects and Ocular Hypertelorism
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2010)
Objectives: 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 ...