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Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: A new syndrome?

Lookup NU author(s): Dr Miranda Splitt

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Abstract

We report an 8-month-old girl with extreme microcephaly, lissencephaly, tetralogy of Fallot and Hirschsprung disease. She has a history of infantile spasms with developmental stagnation. Various diagnoses were considered but none seem to fit her clinical presentation. This combination of findings has not been described in the past and we suggest that this may be a previously undescribed neurodevelopmental syndrome resulting from a global failure of neuronal migration. © 2006 Lippincott Williams & Wilkins.

Publication metadata

Author(s): Tanteles GA, Kurup B, Rauch A, Splitt MP

Publication type: Article

Publication status: Published

Journal: Clinical Dysmorphology

Year: 2006

Volume: 15

Issue: 2

Pages: 107-110

ISSN (print): 0962-8827

ISSN (electronic): 1473-5717

Publisher: Lippincott Williams & Wilkins

URL: http://dx.doi.org/10.1097/01.mcd.0000198927.78835.6a

DOI: 10.1097/01.mcd.0000198927.78835.6a

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