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  • Title: Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?
    Author: Tanteles GA, Kurup B, Rauch A, Splitt MP.
    Journal: Clin Dysmorphol; 2006 Apr; 15(2):107-10. PubMed ID: 16531738.
    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.
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