van den Bergh P, Fryns J P, Wilms G, Piot R, Dralands G, van den Bergh R
Clin Genet. 1984 Mar;25(3):288-94. doi: 10.1111/j.1399-0004.1984.tb01991.x.
A 17-year-old female developed a syndrome of benign intracranial hypertension after a minor craniocerebral trauma. On the vertex a congenital scalp anomaly was noticed. An underlying bone defect was revealed by skull radiographs. Cerebral angiography showed absence of the straight sinus as well as other abnormalities of the cerebral venous drainage. In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister. These stigmata could be interpreted as a partial expression of the Aarskog (facial-digital-genital) syndrome after examination of the 9-year-old brother who presented the typical facial, digital and genital features of this X-linked recessively inherited syndrome.
一名17岁女性在轻微颅脑外伤后出现良性颅内高压综合征。在头顶发现先天性头皮异常。颅骨X线片显示存在潜在的骨缺损。脑血管造影显示直窦缺如以及其他脑静脉引流异常。此外，还存在一些畸形特征，尤其是面部和手部，其母亲和姐姐也有这些特征。在对一名9岁男孩进行检查后发现，这些体征可被解释为Aarskog（面-指-生殖器）综合征的部分表现，该男孩呈现出这种X连锁隐性遗传综合征典型的面部、手指和生殖器特征。
