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[Angelman syndrome. Early diagnosis]
C Campos Tristán1, L G Gutiérrez Solana, F Martín Casillas
1Servicio de Análisis Clínicos, Hospital Niño Jesús, Madrid.
Anales Espanoles De Pediatria
|July 1, 1993
Insights
Early diagnosis of Angelman syndrome in infants is possible through clinical and electroencephalographic features. This allows for prompt genetic counseling and intervention for affected children.
Area of Science:
- Pediatric Neurology
- Clinical Genetics
Background:
- Angelman syndrome is a rare genetic disorder affecting the nervous system.
- Early identification is crucial for management and support.
Abstract:
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 genetic counseling.