Article
Familial Sotos syndrome: longitudinal study of two additional cases.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Scarpa P, Faggioli R, Voghenzi A
Abstract excerpt
We describe two siblings with Sotos syndrome, probably inherited from their father. The diagnosis was made early in both children, who presented psychomotor delay from early on as well as a strikingly similar phenotype (macrocrania, coarse face, accelerated growth). The prolonged follow-up of both children shows severe but non progressive motor and language developmental delay, followed by improvement with age in...
Topics
- Adult
- Child
- Child, Preschool
- Female
- Follow-Up Studies
- Gigantism
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Longitudinal Studies
- Male