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  • Title: Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII).
    Author: Gurrieri F, Sammito V, Ricci B, Iossa M, Bellussi A, Neri G.
    Journal: Am J Med Genet; 1992 Apr 01; 42(6):789-92. PubMed ID: 1554016.
    Abstract:
    The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.
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