Lambert J C, Ferrari M, Donzeau M, Ayraud N, Chiaramello W, Mariani R
Hum Genet. 1981;57(2):145-7. doi: 10.1007/BF00282011.
Two cases of newborn male infants afflicted with trisomy 18 and with signs of arthrogryposis multiplex congenita (AMC) are described. Anomalies occurring in most cases of trisomy 18 such as polyhydramnios, reduced foetal activity, and skeletal muscle hypoplasia decrease articular movements and, thus might cause AMC. Since AMC is rarely associated with trisomy 18, chromosomal aberration is not the only factor involved in these cases.
本文描述了两例患有18三体综合征且伴有先天性多发性关节挛缩症(AMC)体征的新生男婴。大多数18三体综合征病例中出现的羊水过多、胎儿活动减少和骨骼肌发育不全等异常情况会减少关节活动,从而可能导致AMC。由于AMC很少与18三体综合征相关联,染色体畸变并非这些病例中的唯一相关因素。