Dandy-Walker variant in Coffin-Siris syndrome.
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.
Imai
T
T
Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan. imatsuyo@kuhp.kyoto-u.ac.jp
Hattori
H
H
Miyazaki
M
M
Higuchi
Y
Y
Adachi
S
S
Nakahata
T
T
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