致死性侏儒症（作者译）
[Thanatophoric Dwarfism (author's transl)].
作者信息
Reinken L, Frisch H, Höpfel I
出版信息
Padiatr Padol. 1978;13(3):271-83.
PMID:673432
Abstract
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.
摘要
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。
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