Price S M, Berry A C, Raymond F L, Turnpenny P, Young I D
Department of Clinical Genetics, Leicester Royal Infirmary, UK.
Clin Dysmorphol. 1998 Jan;7(1):35-40.
Amelia is an extremely rare abnormality with a highest reported incidence of 1 in 67,500 liveborn infants. We now report four cases in each of which amelia involving one upper limb occurred in association with anal atresia. The pattern of other abnormalities present in these cases suggests that this combination of amelia and anal atresia falls within the spectrum of the VACTERL association.
无肢畸形是一种极其罕见的先天性异常，据报道，其在活产婴儿中的最高发病率为67500分之一。我们现报告4例病例，每例均为一侧上肢无肢畸形合并肛门闭锁。这些病例中存在的其他异常模式表明，这种无肢畸形与肛门闭锁的组合属于VACTERL综合征的范畴。
