Dandy-Walker anomaly in Meckel-Gruber syndrome.
We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.
Cincinnati
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P
Sez.ne di Pediatria, Ospedale E.De Santis, Genzano di Roma, Italy.
Neri
M E
ME
Valentini
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A
D000015:Abnormalities, Multiple / Q000473:pathology*; D000029:Abortion, Legal; D003616:Dandy-Walker Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D011247:Pregnancy; D013577:Syndrome