| Literature DB >> 8357569 |
P Moerman1, P Pauwels, K Vandenberghe, J M Lauweryns, J P Fryns.
Abstract
We describe two siblings with the combination of central nervous system malformations, renal dysplasia and hepatic ductal plate malformation. Based on the occurrence of a cerebellar Dandy-Walker malformation (variant), the diagnosis of Goldston syndrome was proposed in the first case. The second sibling however, showed a typical Meckel syndrome with occipital encephalocele. Both cases had a cranium bifidum with two defects in the squamous part of the occipital bone. This observation confirms that Goldston syndrome is not a distinct entity but merely a variant of Meckel syndrome, and that a cerebellar Dandy-Walker malformation can be a component of Meckel syndrome.Entities:
Mesh:
Year: 1993 PMID: 8357569
Source DB: PubMed Journal: Genet Couns ISSN: 1015-8146