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  • Title: Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
    Author: Sivasli O, Ozer EA, Ozer A, Aydinlioglu H, Helvaci M.
    Journal: Genet Couns; 2007; 18(2):247-50. PubMed ID: 17710878.
    Abstract:
    Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain.
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