Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report

✍ Scribed by Nevin, N. C. ;Silvestri, J. ;Kernohan, D. C. ;Hutchinson, W. M.

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 364 KB
• Volume: 51
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320510311

✦ Synopsis

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. © 1994 Wiley‐Liss, Inc.