Fraser F C, Anderson R A, Mulvihill J I, Preus M
Clin Genet. 1987 Jul;32(1):28-34. doi: 10.1111/j.1399-0004.1987.tb03319.x.
In two patients that closely resembled the phenotype of the syndrome produced by aminopterin in early pregnancy, no evidence of maternal exposure could be elicited. These, plus two similar cases from the literature, suggest the existence of an "aminopterin-like syndrome sine aminopterin" (ASSA) syndrome. Characteristic traits are: ossification defects of the cranium, temporal recession of hairline with upswept frontal hair pattern, ocular hypertelorism, prominent nose root, low set posteriorly rotated ears, limited elbow movement, variable digital defects, simian creases, short stature, and mild to moderate psychomotor retardation. Autosomal recessive inheritance is a possibility.
在两名临床表现与妊娠早期氨甲蝶呤所致综合征极为相似的患者中，未发现有母亲接触过该药物的证据。这两例患者，再加上文献中另外两例相似病例，提示存在一种“无氨甲蝶呤的氨甲蝶呤样综合征”（ASSA）。其特征性表现为：颅骨骨化缺陷、发际线颞部后移伴额部毛发上翘、眼距增宽、鼻根突出、耳朵低位且向后旋转、肘部活动受限、手指畸形多样、猿掌纹、身材矮小以及轻至中度精神运动发育迟缓。有可能为常染色体隐性遗传。
