Franceschi M, Parmigiani F, Zamproni P, Cairoli G, Canal N
J Neurol. 1984;231(1):11-3. doi: 10.1007/BF00313645.
The Richards-Rundle syndrome (RRS) is characterized by hearing loss, mental deterioration, ataxia, primary hypogonadism and autosomal recessive transmission. In a sibship of six members we found two sisters with RRS together with baldness, impaired GH and PRL secretion after stimulation and different degrees of impaired insulin secretion. Cochleovestibular investigation of the sibship revealed in each subject more or less severe forms of bulbo-pontine cochleovestibular dysfunction. Three members of the same sibship had cutaneous signs of abortive forms of neurofibromatosis: the son of one of these subjects had a severe form of fully developed neurofibromatosis. Whether there is a pathogenetic linkage between the hereditary multisystemic degeneration (RRS), the dysembryopathy (neurofibromatosis) and the cochleovestibular dysfunction in this family is still not clear.
理查兹 - 朗德尔综合征（RRS）的特征为听力丧失、智力衰退、共济失调、原发性性腺功能减退以及常染色体隐性遗传。在一个六口之家的亲属中，我们发现两名患有RRS的姐妹同时伴有秃头症、刺激后生长激素（GH）和催乳素（PRL）分泌受损以及不同程度的胰岛素分泌受损。对该亲属进行的耳蜗前庭检查显示，每个受试者都或多或少存在严重程度不同的延髓 - 脑桥耳蜗前庭功能障碍。该亲属中的三名成员有神经纤维瘤病不完全型的皮肤症状：其中一名受试者的儿子患有严重的完全型神经纤维瘤病。这个家族中遗传性多系统退化（RRS）、胚胎发育异常（神经纤维瘤病）和耳蜗前庭功能障碍之间是否存在致病联系仍不清楚。
