Goldston syndrome reconsidered.

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.

• Authors: P Moerman, P Pauwels, K Vandenberghe, J M Lauweryns, J P Fryns
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 4 Issue 2 Pg. 97-102 ( 1993) ISSN: 1015-8146 [Print] Switzerland
• PMID: 8357569 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, pathology)
• Brain (abnormalities)
• Dandy-Walker Syndrome (diagnostic imaging)
• Encephalocele (diagnostic imaging, pathology)
• Female
• Hepatic Duct, Common (abnormalities)
• Humans
• Kidney (abnormalities)
• Liver (pathology)
• Male
• Occipital Bone (abnormalities)
• Phenotype
• Pregnancy
• Syndrome
• Ultrasonography, Prenatal