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  • Title: Midline facial defects with ocular colobomata.
    Author: Temple IK, Brunner H, Jones B, Burn J, Baraitser M.
    Journal: Am J Med Genet; 1990 Sep; 37(1):23-7. PubMed ID: 1700608.
    Abstract:
    We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal "dysplasia." Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal "dysplasia." The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.
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