Reinken L, Frisch H, Höpfel I
Padiatr Padol. 1978;13(3):271-83.
Four cases of thanatophoric dwarfism which appeared between 1974 and 1977 are described. Thanatophoric dwarfism was firstly described in 1967. In the mean-time there are reports about 44 cases. The frequency of thanatophoric dwarfism is considered to be 1 to 6393 newborns. There is no clear evidence about the occurrence of thanatophoric dwarfism, chromosone patterns have been always normal. This type of dwarfism is differentiated from other similar syndromes.
本文描述了1974年至1977年间出现的4例致死性侏儒症病例。致死性侏儒症于1967年首次被描述。与此同时，有关于44例病例的报道。致死性侏儒症的发病率被认为是每6393例新生儿中有1例。目前尚无关于致死性侏儒症发病的确切证据，其染色体模式一直正常。这种类型的侏儒症与其他类似综合征有所区别。
