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

被引:6
作者
Galasso, Cinzia
Bombardieri, Roberta
Cerminara, Caterina
Stranci, Giuseppe
Curatolo, Paolo
机构
[1] Univ Roma Tor Vergata, Dept Neurosci, Pediat Neurol Unit, Pediat Neurol Sect, I-00133 Rome, Italy
[2] Univ Palermo, Child Neurol & Psychiat Sect, I-90133 Palermo, Italy
关键词
Anophthalmia-Waardenburg syndrome; neural crest; epilepsy;
D O I
10.1177/0883073807307100
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:1252 / 1255
页数:4
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