Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography.
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.
Gil-da-Silva-Lopes
Vera Lúcia
VL
Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil. vlopes@fcm.unicamp.br
Giffoni
Silvio David Araújo
SD
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006972:Hypertelorism; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014057:Tomography, X-Ray Computed