title: Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?
abstract: We describe a child with bilateral anophthalmia, limb anomalies, skin lesions, cerebral malformations, epilepsy, and mental retardation. This patient, according to eponymous classification, should fit into the Anophthalmia-Waardenburg syndrome, although he also presents cutaneous and cerebral manifestations never reported in this syndrome until now. These clinical findings could be explained by the new classification of brain malformations, which takes into account the role of neural crest in Waardenburg syndrome.
authors.affiliation: Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy. cinzia.galasso@uniroma2.it
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.forename: Roberta
authors.initials: R
authors.lastname: Bombardieri
authors.forename: Caterina
authors.initials: C
authors.lastname: Cerminara
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Stranci
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
mesh_terms: D000853:Anophthalmos / Q000150:complications* / Q000473:pathology; D002648:Child; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D008297:Male; D009432:Neural Crest / Q000002:abnormalities*; D010641:Phenotype; D014849:Waardenburg Syndrome / Q000150:complications* / Q000473:pathology