Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Section of Child Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana.
Am J Med Genet A. 2019 Feb;179(2):300-305. doi: 10.1002/ajmg.a.60698. Epub 2018 Dec 14.
Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Here we report on two further unrelated individuals diagnosed with Wiedemann-Steiner syndrome, one of whom is in her third decade of life. In addition, both individuals have novel KMT2A mutations. The information provided below about the outcome in Wiedemann-Steiner syndrome is important for families of affected individuals.
威德曼-施泰因综合征是一种与畸形面容、多毛症、身材矮小、发育迟缓以及智力残疾相关的遗传疾病。也有报道称其与脑、心脏、肾脏和视神经结构的先天性畸形有关。由于大多数患有这种疾病的报告个体年龄均小于 20 岁，因此其长期预后尚未明确。在这里，我们报告了另外两例不相关的威德曼-施泰因综合征患者，其中一例患者已步入其生命的第三个十年。此外，这两例患者均存在新型 KMT2A 突变。下面关于威德曼-施泰因综合征的结果信息对受影响个体的家庭非常重要。
