Devriendt K, Holvoet M, Fryns J P
Center for Human Genetics, University Hospital Leuven, Belgium.
Genet Couns. 1998;9(3):191-4.
Further Delineation of the KBG syndrome: We present a mother and her daughter with clinical features of KBG syndrome, including mild mental retardation, distinct facial features, macrodontia and skeletal anomalies. In the daughter, a heart defect (ventricular septal defect) was present.
KBG综合征的进一步描述:我们报告了一位患有KBG综合征临床特征的母亲及其女儿,这些特征包括轻度智力障碍、独特的面部特征、巨牙症和骨骼异常。在女儿身上,还存在心脏缺陷(室间隔缺损)。