Annerén G, Arvidson B, Gustavson K H, Jorulf H, Carlsson G
Clin Genet. 1984 Sep;26(3):178-86. doi: 10.1111/j.1399-0004.1984.tb04365.x.
In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 (OFD-I) and type 2 (OFD-II), it is important to establish a correct diagnosis in these patients. In this report two new patients with the OFD-I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact. She died at the age of four months and autopsy of the brain revealed abnormalities typical of the syndrome, which are discussed. The other patient (Case 2) has so far had normal mental development. Although these two patients were affected to a very different degree, they both presented the clinical and radiological characteristics of the OFD-I syndrome. These two patients and previously reported cases of the OFD-I and OFD-II syndromes were compared with a patient with the OFD-II syndrome (Case 3), a patient reported earlier who is undergoing follow-up. The radiological features of the skeleton in the two syndromes are presented. The irregular mineralization of the hands and feet characteristic of OFD-I, but not of OFD-II, seems to offer a good opportunity to distinguish between these two syndromes. It is suggested that this finding is pathognomonic for the OFD-I syndrome.
鉴于口面指综合征1型（OFD-I）和2型（OFD-II）这两种综合征的不同遗传模式和不同预后，对这些患者进行正确诊断很重要。本报告介绍了两名患有OFD-I综合征的新患者。其中一名患者（病例1）有多种先天性畸形，从未有过任何精神交流。她在4个月大时死亡，脑部尸检显示出该综合征典型的异常情况，对此进行了讨论。另一名患者（病例2）到目前为止智力发育正常。尽管这两名患者的受影响程度差异很大，但他们都表现出OFD-I综合征的临床和放射学特征。将这两名患者以及之前报道的OFD-I和OFD-II综合征病例与一名患有OFD-II综合征的患者（病例3）进行了比较，病例3是一名之前报道过且正在接受随访的患者。介绍了这两种综合征骨骼的放射学特征。OFD-I特有的手足矿化不规则（而非OFD-II）似乎为区分这两种综合征提供了一个很好的机会。有人认为这一发现是OFD-I综合征的特征性表现。
