title: Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
abstract: We present two patients with congenital anterolateral bowing of the tibia with polydactyly who had, in addition, cerebral malformations including agenesis of the corpus callosum and a large cerebral cyst. We discuss phenotypic overlap with the acrocallosal syndrome.
authors.affiliation: Center for Human Genetics, Department of Pediatric Neurology, University Hospital Leuven, Belgium.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Breckpot
authors.forename: Bernard
authors.initials: B
authors.lastname: Thienpont
authors.forename: Christine
authors.initials: C
authors.lastname: Vanhole
authors.forename: Els
authors.initials: E
authors.lastname: Van Rossem
authors.forename: Dominique
authors.initials: D
authors.lastname: Van Schoubroeck
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Lieven
authors.initials: L
authors.lastname: Lagae
authors.forename: Gunnar
authors.initials: G
authors.lastname: Buyse
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000293:Adolescent; D016080:Arachnoid Cysts / Q000150:complications* / Q000000981:diagnostic imaging; D001847:Bone Diseases / Q000150:complications / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D017689:Polydactyly / Q000150:complications* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging