Links

Tools

Export citation

Search in Google Scholar

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation

Journal article published in 2004 by Marcelo Valente, Kette D. Valente ORCID, Sofia S. M. Sugayama, Chong Ae Kim
This paper is available in a repository.
This paper is available in a repository.

Full text: Download

Question mark in circle
Preprint: policy unknown
Question mark in circle
Postprint: policy unknown
Question mark in circle
Published version: policy unknown

Abstract

Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.