title: [Serious cerebral malformations (corpus callosum aplasia, prosencephalic cyst), internal carotid canal and facial malformations due to neural crest abnormalities, associated with choleosteatoma].
abstract: The authors report an original case of malformative spectrum, which includes cerebral (corpus callosum aplasia, prosencephalic cyst) facial, otic and basi-cranial dysplasias associated with cholesteatoma. Cephalic neural crest cells migrate to different regions in the head and neck, where they contribute to the development of mainly the first and second branchial arches and of many structures as the anterior skull base, the face, the ear and the forebrain. Data suggest that the link between these rare malformations is abnormal neural crest development, perhaps due to defective Hh signal.
authors.affiliation: Dipartimento di Pediatria, Università degli Studi di Genova, Genova, Italy. agostinoberio@ospedale-gaslini.ge.it
authors.forename: A
authors.initials: A
authors.lastname: Berio
authors.forename: A
authors.initials: A
authors.lastname: Piazzi
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002339:Carotid Arteries / Q000002:abnormalities*; D002781:Cholesteatoma / Q000150:complications / Q000175:diagnosis; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D009432:Neural Crest / Q000002:abnormalities*; D016548:Prosencephalon / Q000002:abnormalities*