致死性侏儒(Thanatophoric dwarfism)系1967年由Maroteaux首次报道。是一种不明原因的导致胎儿或新生儿死亡的骨骼系统先天畸形,据查阅文献国内尚未见公开报道,作者近发现一例报道如下。患儿母,36岁。因急性羊水过多入院。曾正常分娩4次。配偶37岁,夫妇表型正常,无亲缘关系,家族中无畸形及遗传病史。此次妊娠33周前无明显并发症,无用药史,但在末次月经后和孕早期有农药“呋喃丹”接 Thanatophoric dwarfism was first reported by Maroteaux in 1967. Is an unknown cause of fetal or neonatal death of the skeletal system of congenital malformations, according to the literature has not been found publicly reported, the author found a case recently reported as follows. Child mother, 36 years old. Due to excessive admission of amniotic fluid. Had normal delivery 4 times. Spouse 37 years old, the couple phenotype normal, unrelated, family without deformity and genetic history. The pregnancy 33 weeks before no significant complications, no medication history, but in the last menstrual and early pregnancy with pesticides “carbofuran ”