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Type 1 Arnold–Chiari malformation and Noonan syndrome. A new diagnostic feature?

Holder-Espinasse, Muriel; Winter, Robin M.

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Noonan syndrome is a clinically and genetically heterogeneous genetic condition. Arnold–Chiari malformation has been previously reported in three cases of Noonan syndrome. We describe a fourth case with this association. We suggest that brain and cervical spine MRI should be performed if neurological symptoms are present.

Clinical Genetics Unit, Institute of Child Health, London, UK

Correspondence and request for reprints to Robin Winter, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guildford street, London WC1N 1EH, UK

Tel: +44 20 7905 2647; Fax: +44 20 7813 8141;

e-mail: rwinter@ich.ucl.ac.uk

Received 10 April 2003 Accepted 27 May 2003

© 2003 Lippincott Williams & Wilkins, Inc.