Staalman C R
Radiol Clin (Basel). 1976;45(2-4):242-50.
Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death.
本文报告了两例致死性侏儒症病例。在外部体格检查中，这种异常与软骨发育不全及其他形式的先天性比例失调性侏儒症不易区分。然而，在放射学上，特征性的骨骼改变是可显示的。该诊断可在子宫内做出。临床病程总是致命的。对于父母的遗传咨询很重要的遗传方面仍未得到解释。所讨论的患者表现出典型的致死性侏儒症骨骼改变，并伴有一种骨融合形式，即一例为双侧桡尺骨融合，另一例为冠状缝和人字缝融合。强调了在不明原因羊水过多和围产期死亡病例中进行放射学检查的重要性。
