title: Familial Precocious Fetal Abnormal Cortical Sulcation.
abstract: The development of the human cerebral cortex is a complex and precisely programmed process by which alterations may lead to morphological and functional neurological abnormalities. We report familial cases of prenatally diagnosed abnormal brain, characterized by aberrant symmetrical mesial oversulcation of the parietooccipital lobes, in fetuses affected by abnormal skeletal features. Fetal brain anomalies were characterized by prenatal magnetic resonance imaging at 21 weeks of gestation and histologically evaluated at 22 weeks. Histological examination added relevant information showing some focal cortical areas of micropoligyria and heterotopic extension of the cortical plate into the marginal zone beneath the cortical surface. Genetic analysis of the fetuses excluded FGFR3 mutations known to be related to skeletal dysplasia and aberrant symmetrical oversulcation in other brain areas (temporal lobes). Hence, the present report suggests the existence of a class of rare syndromes of skeleton and brain development abnormality unrelated to FGFR3 mutations or related to other not described FGFR3 gene defects. Using magnetic resonance imaging, histopathology and molecular characterization we provide an example of a translational study of a rare and unreported brain congenital malformation.
authors.affiliation: Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione IRCCS, Istituto Neurologico "C. Besta," Milano, Italy.
authors.forename: Carolina
authors.initials: C
authors.lastname: Frassoni
authors.affiliation: Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milano, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Avagliano
authors.affiliation: Clinical Epileptology and Experimental Neurophysiology Unit, Fondazione IRCCS, Istituto Neurologico "C. Besta," Milano, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Inverardi
authors.affiliation: Department of Obstetrics and Gynecology, Children's Hospital V. Buzzi, Milan, Italy.
authors.forename: Luigina
authors.initials: L
authors.lastname: Spaccini
authors.affiliation: Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Parazzini
authors.affiliation: Department of Obstetrics and Gynecology, Children's Hospital V. Buzzi, Milan, Italy.
authors.forename: Maria Angela
authors.initials: MA
authors.lastname: Rustico
authors.affiliation: Department of Health Sciences, San Paolo Hospital Medical School, University of Milan, Milano, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Bulfamante
authors.affiliation: Department of Pediatric Radiology and Neuroradiology, Children's Hospital V. Buzzi, Milan, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Righini
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology; D004453:Echoencephalography; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D006801:Humans; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D016104:Oligohydramnios / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3