Download PDF
Neuropediatrics 1993; 24(1): 43-46
DOI: 10.1055/s-2008-1071511
Case report

© Georg Thieme Verlag KG Stuttgart · New York

A Sibship with a Neuronal Migration Defect, Cerebellar Hypoplasia and Congenital Lymphedema

J. O'B. Hourihane1,2 , C. P. Bennett3 , R.  Chaudhuri4 , S. A. Robb2 , N. D. T. Martin1
  • 1Department of Pediatrics, Kent and Canterbury Hospital, Canterbury, Kent, CT1 3NG, England
  • 2Department of Paediatric Neurology, Newcomen Centre, Guy's Hospital, London, SE1 9RT, England
  • 3South East Thames Regional Genetics Centre, 8th Floor, Guy's Tower, Guy's Hospital, London, SE1 9RT, England
  • 4Department of Magnetic Resonance Imaging, Radiological Sciences, Guy's Hospital, London, SE1 9RT, England
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Also available at
  PDF Download  Permissions and Reprints

Abstract

We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiological and histopathological features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.

Key words

Cerebellar malformation - Lymphedema