Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

Jeroen Breckpot; Bernard Thienpont; Christine Vanhole; Els Van Rossem; Dominique Van Schoubroeck; Jean-Pierre Fryns; Lieven Lagae; Gunnar Buyse; Koen Devriendt

doi:10.1097/MCD.0b013e32832d06d7

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

Clin Dysmorphol. 2009 Oct;18(4):195-200. doi: 10.1097/MCD.0b013e32832d06d7.

Authors

Jeroen Breckpot¹, Bernard Thienpont, Christine Vanhole, Els Van Rossem, Dominique Van Schoubroeck, Jean-Pierre Fryns, Lieven Lagae, Gunnar Buyse, Koen Devriendt

Affiliation

¹ Center for Human Genetics, Department of Pediatric Neurology, University Hospital Leuven, Belgium.

PMID: 19617820
DOI: 10.1097/MCD.0b013e32832d06d7

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Arachnoid Cysts / complications*
Arachnoid Cysts / diagnostic imaging
Bone Diseases / complications
Bone Diseases / congenital*
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Polydactyly / complications*
Polydactyly / diagnostic imaging
Pregnancy
Radiography
Tibia / abnormalities*
Tibia / diagnostic imaging
Toes / abnormalities*
Toes / diagnostic imaging