Article
Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.
Archivos argentinos de pediatria - 1 Jun 2020
Cammarata-Scalisi Francisco, Callea Michele, Stock Frances, Zambito Valentina, Sparago Ángela, Riccio Andrea
Abstract excerpt
Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. Its global incidence is estimated at 1 in 30 000-100 000 births, even though this figure may be underestimated. In approximately 60 % of cases, a molecular cause can be...
Topics
- Diagnosis, Differential
- Genetic Association Studies
- Genetic Counseling
- Genetic Markers
- Genetic Testing
- Genomic Imprinting
- Humans
- Models, Genetic
- Mutation
- Silver-Russell Syndrome