Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders.

Abstract

Worster-Drought syndrome (WDS) is a distinct clinical phenotype, comprising a congenital pseudobulbar palsy usually in association with a mild tetraplegia and often additional impairments. The phenotype is identical to that described in congenital bilateral perisylvian polymicrogyria syndrome (CBPS) and appears to have several different causes and a significant familial incidence. This study draws from a database of children with WDS phenotype or perisylvian polymicrogyria, held at a tertiary center. The findings suggest that genetic factors are important for a significant proportion of children and points to considerable genetic heterogeneity. There are grounds for considering WDS and perisylvian polymicrogyria as a spectrum of perisylvian malfunction.

• Authors: Maria Clark, Brian G R Neville
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 1 Pg. 35-42 (Jan 01 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 17994559 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2007 Wiley-Liss, Inc.

Topics

• Behavioral Symptoms (diagnosis, diagnostic imaging, etiology, genetics)
• Diseases in Twins
• Epilepsy (diagnosis, diagnostic imaging, etiology, genetics, physiopathology)
• Family
• Female
• Humans
• Karyotyping
• Learning Disabilities (diagnosis, diagnostic imaging, etiology, genetics)
• Magnetic Resonance Imaging
• Male
• Malformations of Cortical Development (diagnosis, diagnostic imaging, etiology, genetics)
• Phenotype
• Pseudobulbar Palsy (diagnostic imaging, genetics, pathology, physiopathology)
• Quadriplegia (diagnostic imaging, genetics, pathology, physiopathology)
• Radiography
• Siblings
• Syndrome