Redon J Y, Le Grevellec J Y, Marie F, Le Coq E, Le Guern H
J Gynecol Obstet Biol Reprod (Paris). 1984;13(4):437-41.
A case of antenatal diagnosis of campomelic dwarfism is reported. The diagnosis was established because of polyhydramnios at 37 weeks of amenorrhoea allowing the discovery through ultrasonography of an uretreral dilatation along with dwarfism. The X-Rays of the uterine contents established the diagnosis. The possibility of the antenatal diagnosis is considered before 20 weeks with an ultrasonography where limbs are systematically measured. As recessive autosomic recession is likely, research must above all be undertaken into past records. Amniocentesis at 16 weeks of amenorrhoea would make it possible to establish the diagnosis if the chromosome type is XY with weak amniotic androgens. Often in this type of anomaly it is difficult to differentiate the sexes.
本文报告了一例先天性脊柱发育不良的产前诊断病例。诊断依据是停经37周时出现羊水过多，通过超声检查发现输尿管扩张及侏儒症，对子宫内胎儿进行X线检查后确诊。产前诊断可在20周前通过系统测量四肢的超声检查进行，由于该病可能为常染色体隐性遗传，首先必须调查家族病史。停经16周时进行羊膜穿刺术，如果染色体类型为XY且羊水雄激素水平较低，则可确诊。在这类畸形中，往往难以区分性别。
