An unusual dysplasia-malformation-cancer syndrome in two patients.
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.
D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D013577:Syndrome; D013724:Teratoma / Q000150:complications / Q000235:genetics*