Durkin-Stamm M V, Gilbert E F, Ganick D J, Opitz J M
Am J Med Genet. 1978;1(3):279-89. doi: 10.1002/ajmg.1320010304.
We report two patients with a similar syndrome of gross malformation of a lower limb and contiguous structures due to involvement with dysplastic, teratomatous tissue. This dysplasia seems to have arisen in a paramedian position in the embryonic hindquarter at the time of lower limb-bud differentiation. Malignant degeneration at 5--7 months led to metastases and death in both cases around 1 year of age. The behavior of the dysplastic/oncoplastic tissue suggests a 2-"mutational" causal model. This is an apparently previously undescribed formal genesis syndrome.
我们报告了两名患者，他们患有相似的综合征，即由于发育异常的畸胎瘤样组织累及导致下肢及相邻结构严重畸形。这种发育异常似乎在胚胎后肢分化时出现在胚胎后半部的旁正中位置。5至7个月时发生恶性变，导致两例患者均在1岁左右出现转移并死亡。发育异常/肿瘤形成组织的行为提示一种双“突变”因果模型。这显然是一种此前未被描述过的典型发生综合征。
