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  • Title: Agnathia malformation complex associated with a cystic distention of the oral cavity and hydranencepahly.
    Author: Persutte WH, Yeasting RA, Kurczynski TW, Lenke RR, Robinson H.
    Journal: J Craniofac Genet Dev Biol; 1990; 10(4):391-7. PubMed ID: 2074276.
    Abstract:
    A fetus with a severe variant of the agnathia malformation complex (AMC) was delivered following prenatal diagnostic evaluation with ultrasonography. The constellation of anomalies that accompanied the agnathia included holoprosencephaly, hydranencephaly, situs inversus, and polysplenia. Recently, several authors have reported the association between the agnathia, holoprosencephaly, and situs inversus. We present evidence which suggests that, when hydranencephaly is also present, this may represent the most severe variant of the AMC. Our case is presented, the literature is reviewed, and a hypothesis regarding the embryopathologic mechanism is discussed.
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