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Lookup NU author(s): Dr Miranda Splitt
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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.
Author(s): Tanteles GA, Kurup B, Rauch A, Splitt MP
Publication type: Article
Publication status: Published
Journal: Clinical Dysmorphology
ISSN (print): 0962-8827
ISSN (electronic): 1473-5717
Publisher: Lippincott Williams & Wilkins
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