Wilcox W R, Lucas B C, Loebel B, Bachman R P, Lachman R S, Rimoin D L
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California 90048, USA.
Am J Med Genet. 1998 May 26;77(4):272-6.
We report on two sib fetuses with radiological and morphological findings similar to those of the recently described lethal skeletal dysplasia termed Pacman dysplasia (McKusick, 167220, Am J Med Genet 1993, 45:558-561). The first fetus, a male, was electively terminated after a routine ultrasound study at 20 weeks showed short-limb dwarfism. The second fetus, a female sib, was also electively terminated after similar, abnormal ultrasound findings were noted at 16 weeks of gestation. Similar to Pacman dysplasia, the radiographic appearance was characterized by under-mineralized bone, stippling, rhizomelic and mesomelic shortness, platyspondyly, and a short, broad pelvis. The metaphyses were dense, but the diaphyseal cortices were thin with undermodeled long bones, and there was a deficient trabecular pattern suggesting marrow replacement. Chondro-osseous structure was characterized by deficient trabecular bone formation, a fibrous marrow, and numerous, large, multinucleated osteoclasts lining the endosteal surfaces of the metaphyseal bone. The occurrence of this dysplasia in sibs of differing sex suggests autosomal recessive inheritance.
我们报告了两例同胞胎儿，其放射学和形态学表现与最近描述的致死性骨骼发育不良——吃豆人发育不良（麦库西克编号167220，《美国医学遗传学杂志》1993年，45:558 - 561）相似。首例胎儿为男性，在20周的常规超声检查显示短肢侏儒症后，经选择终止妊娠。第二例胎儿为女性同胞，在妊娠16周发现类似的异常超声表现后，也经选择终止妊娠。与吃豆人发育不良相似，X线表现的特征为骨矿化不足、点状影、近端和中段短肢、椎体扁平以及骨盆短而宽。干骺端致密，但骨干皮质薄，长骨塑形不良，小梁模式缺乏提示骨髓替代。软骨 - 骨结构的特征为小梁骨形成不足、纤维性骨髓以及众多大的多核破骨细胞排列在干骺端骨的骨内膜表面。这种发育不良在不同性别的同胞中出现提示常染色体隐性遗传。
