Article
From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.
European journal of pediatrics - 3 Dec 2024
Sforza Elisabetta, Calà Federico, Manfredi Claudia, Lanatà Antonio, Guala Andrea, Danesino Cesare, Cistaro Angelina, Mazzocca Matelda, D'Alatri Lucia, Onesimo Roberta, Frassineti Lorenzo, Zampino Giuseppe
Abstract excerpt
Genetic syndromes have been studied by extensive research allowing a better definition of their clinical manifestations, natural history, and etiopathogenetic mechanisms. Nevertheless, some relevant, but still unexplored aspects of these multisystemic conditions need to be clarified. One of these aspects is the characterization of the vocal production, especially in some genetic syndromes in which the distinctive...
Topics
- Humans
- Male
- Cri-du-Chat Syndrome
- Female
- Child
- Adolescent
- Child, Preschool
- Phenotype
- Young Adult
- Prospective Studies
- Voice Quality