Hunter A G, Cox D W, Rudd N L
Clin Genet. 1976 May;9(5):470-8. doi: 10.1111/j.1399-0004.1976.tb01599.x.
This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.
本文比较了散发性、显性遗传和隐性遗传的肱桡关节融合的表现，目的是确定基于临床依据区分这些类型的方法。遗传型的特点是双侧受累，且无尺骨远端畸形以及散发性病例中常见的手指缺如。大多数显性遗传型患者具有特征性的异常模式，包括短中节指骨，而隐性病例除肢体畸形外，还存在高频率的其他畸形。隐性病例的家族中近亲结婚很常见。本文还介绍了另外4例患者；其中2例展现了Herrmann等人（1969年）报道的短肢畸形综合征的许多特征。本文讨论了这些病例可能的致畸原因。
