title: Midline facial defects with hypertelorism and low-grade astrocytoma: a previously undescribed association.
abstract: We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.
authors.affiliation: Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, CEP 13084-971 Campinas, São Paulo, Brazil. vlopes@fcm.unicamp.br
authors.forename: Silvyo David Araújo
authors.initials: SD
authors.lastname: Giffoni
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.forename: Marcelo
authors.initials: M
authors.lastname: Valente
authors.forename: Vera Lucia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
mesh_terms: D061085:Agenesis of Corpus Callosum; D001254:Astrocytoma / Q000150:complications*; D001932:Brain Neoplasms / Q000150:complications*; D002675:Child, Preschool; D002971:Cleft Lip / Q000150:complications; D019465:Craniofacial Abnormalities / Q000150:complications*; D004677:Encephalocele / Q000150:complications; D005500:Follow-Up Studies; D006801:Humans; D006972:Hypertelorism / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D009666:Nose / Q000002:abnormalities; D013101:Sphenoid Sinus / Q000473:pathology