同卵双胞胎中的四肢短小-腭裂综合征。
The tetraphocomelia-cleft palate syndrome in identical twins.
作者信息
Fryns H, Goddeeris P, Moerman F, Herman F, van der Berghe H
出版信息
Hum Genet. 1980 Feb;53(2):279-81. doi: 10.1007/BF00273512.
PMID:7188929
Abstract
An identical pair of twins with the tetraphocomelia-cleft palate syndrome is presented. It is hypothesized that Roberts' syndrome and the pseudothalidomide syndrome, previously reported as separate entities, represent different manifestations of the same autosomal, recessively inherited malformation pattern.
摘要
本文报告了一对患有四肢短小-腭裂综合征的同卵双胞胎。据推测，先前作为不同疾病报道的罗伯茨综合征和假性沙利度胺综合征，代表了同一种常染色体隐性遗传畸形模式的不同表现形式。
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