Article
[Neurological presentations of oculodentodigital dysplasia].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000
Rudenskaya G E, Dyomina N A, Bliznetz E A, Khlebnikova O V, Dadaly E L, Polyakov A V
Abstract excerpt
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disorder caused by mutations in connexin 43 gene GJA1. Typical features are syndactyly of IV-V or III-V fingers with/without feet syndactyly, anomalies of eyes, teeth, hair and nose. In about 30% of patients neurological disorders appear later in life: progressive spastic paraparesis, neurogenic bladder/bowel, ataxia, white matter lesions on MRI....
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