Miller M, Fineman R, Smith D W
J Pediatr. 1979 Dec;95(6):970-5. doi: 10.1016/s0022-3476(79)80285-1.
Three patients with a postaxial acrofacial syndrome are presented; the features of these and three other previously described examples are set forth. The facies can be strikingly similar to that of the Treacher Collins syndrome. The limb deficiencies are postaxial, with absence or incomplete development of the fifth digital rays in both the upper and lower limbs. Accessory nipples have been found in most of the patients. The nature of the limb deficiencies and the accessory nipples help to distinguish this condition from Nager AFD. All of the children have normal intelligence and development; most show normal growth. All of the six cases have occurred sporadically.
本文报告了3例轴后性肢端面部综合征患者；阐述了这些患者以及其他3例先前描述病例的特征。其面容可能与特雷彻·柯林斯综合征极为相似。肢体缺陷为轴后性，上下肢均存在第五指骨射线缺如或发育不全。多数患者发现有副乳头。肢体缺陷和副乳头的特征有助于将这种疾病与纳杰尔无肢畸形面容综合征相鉴别。所有患儿智力和发育均正常；多数生长正常。6例均为散发病例。
