title: Dandy-Walker variant in Coffin-Siris syndrome.
abstract: We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain.
authors: Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan. imatsuyo@kuhp.kyoto-u.ac.jp
authors: T
authors: T
authors: Imai
authors: H
authors: H
authors: Hattori
authors: M
authors: M
authors: Miyazaki
authors: Y
authors: Y
authors: Higuchi
authors: S
authors: S
authors: Adachi
authors: T
authors: T
authors: Nakahata
mesh_terms: D002946:Cisterna Magna / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome