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

Am J Med Genet A. 2008 Jan 1;146A(1):35-42. doi: 10.1002/ajmg.a.32015.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

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