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RESEARCH PRODUCT

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

Roberta BombardieriCinzia GalassoGiuseppe StranciCaterina CerminaraPaolo Curatolo

subject

MaleAnophthalmia Waardenburg syndromeElectroencephalography03 medical and health sciencesEpilepsy0302 clinical medicine030225 pediatricsAnophthalmosmedicineHumansWaardenburg SyndromeChildAnophthalmiamedicine.diagnostic_testWaardenburg syndromeNeural crestAnophthalmosElectroencephalographyAnatomymedicine.diseasePhenotypePhenotypeNeural CrestPediatrics Perinatology and Child HealthNeurology (clinical)Psychology030217 neurology & neurosurgery

description

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.

yearjournalcountryeditionlanguage
2007-11-17Journal of child neurology
10.1177/0883073807307100https://pubmed.ncbi.nlm.nih.gov/18006952