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Neuropediatrics 1993; 24(2): 77-82
DOI: 10.1055/s-2008-1071518
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Familial White Matter Hypoplasia, Agenesis of the Corpus Callosum, Mental Retardation and Growth Deficiency: A New Distinctive Syndrome

P.  Curatolo1 , M. R. Cilio1 , E.  Del Giudice2 , A.  Romano2 , R.  Gaggero3 , A.  Pessagno
  • 1Department of Child Neurology and Psychiatry, University La Sapienza, Via dei Sabelli 108, Rome, Italy
  • 2Department of Pediatrics, University of Naples, Via Pansini 5, Naples, Italy
  • 3Department of Child Neurology and Psychiatry, University of Genova, Largo Gaslini 5, Genova, Italy
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We have observed in two different families two pairs of male siblings born from normal, non-consanguineous parents having the same syndrome, characterized by severe cerebral white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, mental retardation, failure to thrive and minor midline facial abnormalities. This seems to be a previously unreported genetic syndrome.

Key words

Cerebral white matter hypoplasia - Corpus callosum agenesis - Mental retardation - MRI - Genetics

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