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Possible new type of oral‐facial‐digital syndrome with retinal abnormalities: OFDS type (VIII)

1992; Wiley; Volume: 42; Issue: 6 Linguagem: Inglês

10.1002/ajmg.1320420608

1096-8628

Fiorella Gurrieri, V. Sammito, Beatrice Ricci, Mario Iossa, A. Bellussi, Giovanni Neri,

Renal and related cancers

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.