Article
GMS syndrome: a new dominant condition with goniodysgenesis, mental retardation, and short stature.
American journal of medical genetics - 1 Jan 1992
Kupchik G S, Ludman M D, Raab E L, Gilbert F
Abstract excerpt
We describe a mother and daughter with a distinct phenotype that is different from previous reports. This is likely to constitute a new syndrome for which we propose the mnemonic GMS for G goniodysgenesis, M mental deficiency, and S short stature. The pattern of occurrence is compatible with either autosomal dominant or X-linked inheritance.
Topics
- Adult
- Child, Preschool
- Eye Abnormalities
- Female
- Genes, Dominant
- Growth Disorders
- Humans
- Intellectual Disability
- Phenotype
- Pregnancy
- Syndrome