Drohm D, Lenz W, Yang T S
Klin Padiatr. 1976 Jul;188(4):359-65.
An additional case "Cenani syndactylism" in a 7 years-old female child was described. With this autosomal recessive inherited disease, the radius and ulna are severly shortened and generally fused with each other. The metacarpal bones are, for the most part, synostosized. The phalanges are badly disorganized. Usually no fingers can be recognized externally. The alterations in the feet are far less pronounced. Syndactylism and ray reduction are frequent. A similar, but apparently independent, case with radioulnar synstostoses, reduction, dysplasia and fusion of the metacarpal bones but less pronounced malformations of the fingers was also described. Finally, new type of malformation was present for comparison in which an increased number of metacarpi and metatarsi and, to some extent, severely disorganized phalanges with massive syndactylism are present. The etiology of the second and third cases could not be explained.
描述了一名7岁女童的另一例“塞纳尼并指畸形”病例。对于这种常染色体隐性遗传病,桡骨和尺骨严重缩短,通常相互融合。掌骨大多已骨性连接。指骨排列严重紊乱。通常从外部无法辨认出手指。足部的改变则远没有那么明显。并指畸形和射线减少很常见。还描述了一个类似但显然独立的病例,该病例存在桡尺骨骨性连接、掌骨减少、发育异常和融合,但手指畸形不太明显。最后,为作比较展示了一种新型畸形,其中掌骨和跖骨数量增加,在某种程度上,指骨严重紊乱且伴有大量并指畸形。第二和第三个病例的病因无法解释。