Herrmann J, Opitz J M
Eur J Pediatr. 1977 Jun 1;125(2):117-34. doi: 10.1007/BF00489985.
We reviewed the SC phocomelia syndrome (SCS) and the Roberts syndrome (RS) to demonstrate techniques of nosologic analysis based primarily on the phenotype analysis. We considered type, localization, severity, and variability of the manifestations. In this patient sample these techniques are not sensitive enough to rule out any one of the three most likely etiologic hypotheses, namely whether the SCS and the RS are due to different recessive genes, different alleles, or the same recessive gene. However, this study does suggest certain implications for each of these possibilities.
我们回顾了短肢海豹肢综合征（SCS）和罗伯茨综合征（RS），以展示主要基于表型分析的疾病分类分析技术。我们考虑了表现的类型、定位、严重程度和变异性。在这个患者样本中，这些技术的敏感性不足以排除三种最可能的病因假设中的任何一种，即SCS和RS是由不同的隐性基因、不同的等位基因还是相同的隐性基因引起的。然而，这项研究确实对这些可能性中的每一种都有一定的启示。
