title: Prenatal diagnosis of frontonasal dysplasia associated with bilateral periventricular nodular heterotopia.
abstract: Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as part of a syndrome such as frontonasal dysplasia associated with periventricular heterotopia. Our goal is to document the first clinical case of prenatal diagnosis for frontonasal dysplasia associated with periventricular heterotopia by fetal magnetic resonance imaging (MRI) at weeks 19.5 and 29 and postnatal MRI. In conclusion, the presence of frontonasal dysplasia in a prenatal ultrasonography should always be followed by a fetal MRI with routine screening for periventricular nodular heterotopias so as to establish a more adequate prognosis for the family.
authors.affiliation: Sección de Neurorradiología, Servicio de Diagnóstico por Imagen, Hospital Quirón, Pozuelo de Alarcón, Madrid, España.
authors.forename: Manuel
authors.initials: M
authors.lastname: Recio-Rodríguez
authors.affiliation: Sección de Neuropediatría, Servicio de Neurología, Hospital Quirón, Pozuelo de Alarcón, Madrid, España dmfmayor@yahoo.es.
authors.forename: Daniel Martín
authors.initials: DM
authors.lastname: Fernández-Mayoralas
authors.affiliation: Sección de Neuropediatría, Servicio de Neurología, Hospital Quirón, Pozuelo de Alarcón, Madrid, España.
authors.forename: Alberto
authors.initials: A
authors.lastname: Fernández-Jaén
authors.affiliation: Sección de Neuropediatría, Servicio de Neurología, Hospital Quirón, Pozuelo de Alarcón, Madrid, España.
authors.forename: Ana Laura
authors.initials: AL
authors.lastname: Fernández-Perrone
authors.affiliation: Sección de Neurorradiología, Servicio de Diagnóstico por Imagen, Hospital Quirón, Pozuelo de Alarcón, Madrid, España.
authors.forename: Raquel
authors.initials: R
authors.lastname: Cano-Alonso
authors.affiliation: Sección de Neurorradiología, Servicio de Diagnóstico por Imagen, Hospital Quirón, Pozuelo de Alarcón, Madrid, España.
authors.forename: Mar
authors.initials: M
authors.lastname: Jiménez-de-La-Peña
mesh_terms: D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery; D005145:Face / Q000002:abnormalities* / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D054091:Periventricular Nodular Heterotopia / Q000150:complications* / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
keywords: cerebral magnetic resonance imaging; frontal and nasal abnormalities; frontonasal dysplasia; neuronal migration disorder; periventricular heterotopia; prenatal