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

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

Author Valente, Marcelo Autor UNIFESP Google Scholar
Valente, Kette D. Autor UNIFESP Google Scholar
Sugayama, Sofia SM Autor UNIFESP Google Scholar
Kim, Chong Ae Autor UNIFESP Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
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.
Language English
Date 2004-11-01
Published in American Journal Of Neuroradiology. Oak Brook: Amer Soc Neuroradiology, v. 25, n. 10, p. 1836-1839, 2004.
ISSN 0195-6108 (Sherpa/Romeo, impact factor)
Publisher Amer Soc Neuroradiology
Extent 1836-1839
Origin http://www.ajnr.org/content/25/10/1836.abstract
Access rights Closed access
Type Article
Web of Science ID WOS:000225344200040
URI http://repositorio.unifesp.br/11600/42318

Show full item record




File

File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account