title: Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report.
abstract: The oral-facial-digital syndromes (OFDS) are a heterogeneous group. Recently, Gurrieri et al. [1992: Am J Med Genet 42:789-792] described a new OFDS characterised by typical oral, facial and digital abnormalities but distinguishable from previously reported OFDS by the presence of retinochoroidal lacunae of an apparently colobomatous origin. Toriello [1993: Clin Dysmorph 2:95-105] designated this possible new OFDS as Type IX. We describe a young woman presenting with oral, facial and digital anomalies and with the specific retinal abnormality reported by Gurrieri et al. [1992], thus confirming the existence of OFDS Type IX. As the patients of Gurrieri et al. [1992] were two affected brothers, they were unable to distinguish between autosomal and X-linked recessive inheritance. As our patient is an affected female, an autosomal recessive mode of inheritance is more likely.
authors.affiliation: Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
authors.forename: J
authors.initials: J
authors.lastname: Silvestri
authors.forename: D C
authors.initials: DC
authors.lastname: Kernohan
authors.forename: W M
authors.initials: WM
authors.lastname: Hutchinson
mesh_terms: D000328:Adult; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000473:pathology; D012160:Retina / Q000002:abnormalities*