Riccardi V M, Wald J S
Pediatrics. 1987 Mar;79(3):386-93.
Neurofibromatosis, a common, progressive, autosomal dominant disorder, is markedly variable in its expressivity. Some authors have suggested that some contribution to neurofibromatosis's variability may be an adverse effect of a mother's neurofibromatosis on the overall severity seen in her offspring with neurofibromatosis. In the present study of 188 maternal affected, paternal affected, and sporadic von Recklinghausen neurofibromatosis cases, the maternal influence question was systematically examined. Overall severity, selected features most likely to reflect in utero maternal influence, and other common neurofibromatosis-I features were analyzed statistically. Age, racial composition, and gender of the three groups were similar. No significant differences were found (P less than or equal to .01) between maternal affected, paternal affected, and sporadic cases in terms of overall severity, probability of reaching advanced severity as a function of age, indications of possible prenatal influence (eg, congenital neurofibromas, tibial pseudarthrosis), or other neurofibromatosis features. These results demonstrate that the nature and severity of neurofibromatosis for maternal affected cases are essentially the same as for paternal affected and sporadic cases.
神经纤维瘤病是一种常见的、进行性的常染色体显性疾病，其表现型具有显著的变异性。一些作者认为，母亲的神经纤维瘤病对其患有神经纤维瘤病的后代的总体严重程度可能产生不利影响，这可能是导致神经纤维瘤病变异性的部分原因。在本研究中，对188例母亲患病、父亲患病以及散发型冯雷克林霍增氏神经纤维瘤病病例进行了系统研究，以探讨母亲的影响这一问题。对总体严重程度、最有可能反映子宫内母亲影响的特定特征以及其他常见的神经纤维瘤病I型特征进行了统计分析。三组的年龄、种族构成和性别相似。在总体严重程度、随年龄达到重度的概率、可能的产前影响迹象（如先天性神经纤维瘤、胫骨假关节）或其他神经纤维瘤病特征方面，母亲患病、父亲患病和散发型病例之间未发现显著差异（P≤0.01）。这些结果表明，母亲患病病例的神经纤维瘤病的性质和严重程度与父亲患病和散发型病例基本相同。
