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Anophthalmia-Waardenburg Syndrome With Expanding Phenotype: Does Neural Crest Play a Role?

Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy,cinzia.galasso{at}uniroma2.it

Roberta Bombardieri, MD

Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy

Caterina Cerminara, MD

Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy

Giuseppe Stranci, MD

Child Neurology and Psychiatric Section, University of Palermo, Italy

Paolo Curatolo, MD

Department of Neurosciences, Pediatric Neurology Section, Tor Vergata University, Rome, Italy

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.

Key Words: Anophthalmia-Waardenburg syndrome • neural crest • epilepsy

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