Gorlin R J, Kantaputra P, Aughton D J, Mulliken J B
Department of Oral Science, School of Dentistry, University of Minnesota, Minneapolis 55455.
Am J Med Genet. 1994 Aug 15;52(2):130-5. doi: 10.1002/ajmg.1320520203.
Analysis of the literature yielded 42 examples of the combination of sternal non-union and supraumbilical raphé without evidence of sex predilection. However, among an additional 31 cases in which the triad included facial hemangioma, there was almost exclusive female occurrence. Another condition involves extensive unilateral hemangioma of the face, absence of ipsilateral carotid and vertebral vessels, mental retardation, and Dandy-Walker malformation. Still another disorder has been proposed which includes facial hemangioma and dilatation of the carotid syphon. Both of these conditions exhibit marked female predilection. Examples of overlap of all three "disorders" cause the authors to question the independence of these disorders, hypothesizing instead that they represent a spectrum.
文献分析得出42例胸骨不愈合与脐上缝的组合病例,无性别偏好证据。然而,在另外31例三联征包括面部血管瘤的病例中,几乎全部为女性。另一种情况涉及面部广泛的单侧血管瘤、同侧颈动脉和椎动脉缺如、智力发育迟缓以及丹迪-沃克畸形。还有一种疾病被提出,包括面部血管瘤和颈动脉虹吸部扩张。这两种情况都表现出明显的女性偏好。所有三种“疾病”重叠的例子使作者质疑这些疾病的独立性,转而假设它们代表一个连续谱。