Article
[Angelman syndrome. Early diagnosis].
Anales espanoles de pediatria - 1 Jul 1993
Campos Tristán C, Gutiérrez Solana L G, Martín Casillas F, Ruiz-Falcó Rojas M L, López-Terradas J M, Vázquez-Cano J
Abstract excerpt
We report two patients who were less than two years old that were diagnosed as having Angelman syndrome. Cytogenetic confirmation of the disease was performed. We emphasize clinical and electroencephalographic features in infants that allow an early diagnosis of this syndrome and allow for prompt...
Topics
- Age Factors
- Angelman Syndrome
- Female
- Humans
- Infant
- Karyotyping
- Phenotype