Nevin N C, Silvestri J, Kernohan D C, Hutchinson W M
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Am J Med Genet. 1994 Jul 1;51(3):228-31. doi: 10.1002/ajmg.1320510311.
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.
口面指综合征（OFDS）是一组异质性疾病。最近，古列里等人[1992年：《美国医学遗传学杂志》42卷：789 - 792页]描述了一种新的OFDS，其特征为典型的口腔、面部和手指异常，但与先前报道的OFDS不同之处在于存在明显源于缺损的视网膜脉络膜腔隙。托列洛[1993年：《临床畸形学》2卷：95 - 105页]将这种可能的新OFDS命名为IX型。我们描述了一名年轻女性，她存在口腔、面部和手指异常，以及古列里等人[1992年]报道的特定视网膜异常，从而证实了IX型OFDS的存在。由于古列里等人[1992年]的患者是两名患病兄弟，他们无法区分常染色体隐性遗传和X连锁隐性遗传。由于我们的患者是一名患病女性，常染色体隐性遗传模式更有可能。
