Knöbber D, Enderer K, Kloppenburg W, Bertram G, Rose K G
Laryngol Rhinol Otol (Stuttg). 1986 Jun;65(6):305-8.
A case of a Gorlin-Goltz-syndrome with anomalies of the stapes and incus of one ear is described for the first time. In the reported case, the hand-foot-uterus-syndrome could be recognised simultaneously. In the literature, about 250 cases of the syndrome are known, first published by Gorlin and Goltz in 1960. Malformations of the middle ear, however, have not yet been described in the Gorlin-Goltz-syndrome. As in the reported case both of the syndromes, the Gorlin-Goltz-syndrome and the hand-foot-uterus-syndrome, could be diagnosed, it must be discussed whether there are two independent syndromes or only one syndrome of polyvalent malformations characterised by variable expressivity.
首次描述了一例伴有一侧耳朵镫骨和砧骨异常的戈林-戈尔茨综合征。在该报道病例中，同时可识别出手足子宫综合征。在文献中，已知约250例该综合征病例，由戈林和戈尔茨于1960年首次发表。然而，中耳畸形在戈林-戈尔茨综合征中尚未有描述。由于在该报道病例中戈林-戈尔茨综合征和手足子宫综合征这两种综合征均被诊断出来，因此必须讨论是否存在两种独立的综合征，还是仅存在一种以可变表达为特征的多价畸形综合征。
