Article
Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.
The Journal of pediatrics - 1 Sept 1998
Johnson J P, Golabi M, Norton M E, Rosenblatt R M, Feldman G M, Yang S P, Hall B D, Fries M H, Carey J C
Abstract excerpt
We describe 8 patients affected with Costello syndrome including an affected sib pair and review the literature on 29 previously reported cases. We emphasize an association with advanced parental age, which is consistent with autosomal dominant inheritance with germline mosaicism. The pathogenesi...
Topics
- Acanthosis Nigricans
- Adolescent
- Adult
- Age Factors
- Carbohydrate Metabolism, Inborn Errors
- Cardiomyopathy, Hypertrophic
- Child
- Child, Preschool
- Diagnosis, Differential
- Dwarfism
- Facies
- Female
- Genes, Dominant
- Germ-Line Mutation
- Glucose
- Humans
- Intellectual Disability
- Male