Article
The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.
Journal of medical genetics - 1 Jun 1990
Huson S M, Rodgers C S, Hall C M, Winter R M
Abstract excerpt
A case is reported where the major clinical features of craniostenosis and radial aplasia led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis and the similarity of the facial phenotype to that of Roberts syndrome was not...
Topics
- Adult
- Centromere
- Chromosome Aberrations
- Chromosome Banding
- Chromosomes, Human, Pair 1
- Chromosomes, Human, Pair 16
- Chromosomes, Human, Pair 9
- Facial Expression
- Female
- Genes, Recessive
- Growth Disorders
- Humans
- Phenotype
- Radiography
- Radius
- Skull
- Syndrome