Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?
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.
Breckpot
Jeroen
J
Center for Human Genetics, Department of Pediatric Neurology, University Hospital Leuven, Belgium.
Thienpont
Bernard
B
Vanhole
Christine
C
Van Rossem
Els
E
Van Schoubroeck
Dominique
D
Fryns
Jean-Pierre
JP
Lagae
Lieven
L
Buyse
Gunnar
G
Devriendt
Koen
K
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