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

J. O'B. Hourihane; C. P. Bennett; R. Chaudhuri; S. A. Robb; N. D. T. Martin

doi:10.1055/s-2008-1071511

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

Case report

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

J. O'B. Hourihane^1,2 , 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

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Publication History

Publication Date:
19 March 2008 (online)

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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

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