Khayat D, Szpirglas H, Lemonnier M P, Laufer J, Schaison G
Rev Stomatol Chir Maxillofac. 1983;84(4):222-4.
Clinical and radiologic findings and differential diagnosis of the rare Robinow's syndrome are discussed in relation to one case. Features included nanism associated with multiple malformations such as mesomelic brachymelia, buccofacial anomalies, genital hypoplasia and hemivertebra. Transmission mechanisms are unknown and the karyotype is always normal.
结合一个病例讨论了罕见的鲁宾诺综合征的临床和放射学表现及鉴别诊断。其特征包括侏儒症伴多种畸形,如中肢短肢、颊面部异常、生殖器发育不全和半椎体。遗传传递机制尚不清楚,核型始终正常。