Soekarman D, Cobben J M, Vogels A, Spauwen P H, Fryns J P
Centre for Human Genetics, University of Leuven, Belgium.
Clin Genet. 1995 Apr;47(4):169-74. doi: 10.1111/j.1399-0004.1995.tb03954.x.
Three successive generations in two families affected with the popliteal pterygium syndrome are reported. While expression of the syndrome was relatively mild in the first and second generation, the patients in the third generation showed the full-blown syndrome. Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is difficult and may even be impossible. The present observations further support the hypothesis that both syndromes may in fact represent variants of the same condition.
报告了两个患有腘窝翼状胬肉综合征的家族中的三代连续病例。虽然该综合征在第一代和第二代中的表现相对较轻，但第三代患者表现出典型的综合征。对轻度受影响的腘窝翼状胬肉综合征患者与范德伍德综合征患者进行鉴别诊断很困难，甚至可能无法做到。目前的观察结果进一步支持了这样一种假设，即这两种综合征实际上可能代表同一疾病的不同变体。
