Anophthalmia-Waardenburg syndrome with expanding phenotype: Does neural crest play a role?

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 malfon-nations, which takes into account the role of neural crest in Waardenburg syndrome.