La Cava G, Gurrieri G, Mastroiacovo P
Pathologica. 1989 May-Jun;81(1073):309-14.
There are at least four different types of Oro-facial-digital syndromes. The features of type II are bilateral polydactyly of hands, peculiar face with normal skin, hair, and intelligence. It is due to an autosomal recessive gene. We report a case of Oro-facio-digital syndrome in a four year old girl with a peculiar face and polydactyly of hand and feet, born from normal non consanguineous parents. Her mother was pregnant at the time of observation and came for an evaluation of the recurrence risk. The pregnancy was monitored by ultrasonography.
至少有四种不同类型的口面指综合征。II型的特征是双手双侧多指畸形，面部奇特但皮肤、毛发和智力正常。这是由常染色体隐性基因引起的。我们报告了一例4岁女孩患口面指综合征的病例，她面部奇特，手脚多指畸形，其父母为正常非近亲结婚。在观察时她的母亲正在怀孕，并前来评估复发风险。通过超声对妊娠进行监测。
