Goldston syndrome reconsidered
Moerman, P.; Pauwels, P.; Vandenberghe, K.; Lauweryns, J.M.; Fryns, J.P.
Genetic Counseling 4(2): 97-102
1993
ISSN/ISBN: 1015-8146 PMID: 8357569 Document Number: 413952
We describe two siblings with the combination of central nervous system maliformations, 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.