Angelman's Syndrome in the First Year of Life
| Autor: | D Giardino, A. Van Lierde, F. Viani, M. G. Atza |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Psychoanalysis First year of life Recurrence risk Developmental Neuroscience Intellectual Disability Angelman syndrome Humans Medicine Sibling Neurologic Examination Chromosomes Human Pair 15 S syndrome business.industry Jerky movements Infant Syndrome medicine.disease Chromosome Banding El Niño Karyotyping Pediatrics Perinatology and Child Health Neurology (clinical) Chromosome Deletion business Spasms Infantile |
| Zdroj: | Developmental Medicine & Child Neurology. 32:1011-1016 |
| ISSN: | 1469-8749 0012-1622 |
| Popis: | Angelman syndrome usually has been considered to be rare and sporadic. However, recent reports suggest a sibling recurrence risk of just under 25 per cent, so early diagnosis is very important. The authors report Angelman syndrome in a child of seven months. The early features of this syndrome (jerky movements, EEG characteristics, chromosomal abnormalities in half the cases) should make it possible to diagnose or suspect the syndrome in the first year of life. |
| Databáze: | OpenAIRE |
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