title: Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)
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.
authors.affiliation: Istituto di Genetica Umana, Catholic University, A. Gemelli School of Medicine, Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: V
authors.initials: V
authors.lastname: Sammito
authors.forename: B
authors.initials: B
authors.lastname: Ricci
authors.forename: M
authors.initials: M
authors.lastname: Iossa
authors.forename: A
authors.initials: A
authors.lastname: Bellussi
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000328:Adult; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*