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  • Title: Ocular malformations associated with agnathia: a case report.
    Author: Peiffer RL, Bouldin TW, Huffines WD, Sulik KA.
    Journal: J Craniofac Genet Dev Biol; 1992; 12(1):55-60. PubMed ID: 1572942.
    Abstract:
    Ocular malformations associated with agnathia in a 34-week gestational age infant were studied histopathologically and included asymmetric microphthalmos. Aphakia and retinal dysplasia were noted in the most severely affected globe; the fellow eye was characterized by microcornea, anterior segment dysgenesis, uveal colobomas, and retinal dysplasia. Aplasia of the optic nerve was seen bilaterally. The combination of agnathia and ocular malformation in the absence of holoprosencephaly is challenging to explain embryologically.
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