Goldston syndrome reconsidered.
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.
Moerman
P
P
Department of Pathology I, Katholieke Universiteit, Leuven, Belgium.
Pauwels
P
P
Vandenberghe
K
K
Lauweryns
J M
JM
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging; D004677:Encephalocele / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006500:Hepatic Duct, Common / Q000002:abnormalities; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008099:Liver / Q000473:pathology; D008297:Male; D009777:Occipital Bone / Q000002:abnormalities*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal