| Literature DB >> 2074565 |
Abstract
The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome.Entities:
Mesh:
Year: 1990 PMID: 2074565 PMCID: PMC1017284 DOI: 10.1136/jmg.27.12.784
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318