Fryns J P, Moerman P, Van den Berghe H, Aymé S
Division of Human Genetics, University of Leuven.
J Genet Hum. 1989 Sep;37(3):203-5.
Prevalence, Clinical variability, Etiology, Survival and Prenatal Diagnosis--In this report, we summarize the actual data on the Fryns syndrome, a true MCA/MR syndrome with autosomal recessive inheritance and sublethal outcome. In addition to the diagnostic triad of diaphragmatic hernia--digital limb hypoplasia--coarse facies, multiple internal malformations are a constant feature.
患病率、临床变异性、病因、生存率及产前诊断——在本报告中,我们总结了有关弗林斯综合征的实际数据,这是一种具有常染色体隐性遗传和亚致死结局的真正的脑小畸形/智力障碍综合征。除了膈疝、肢体指(趾)发育不全、面容粗糙这一诊断三联征外,多种内脏畸形也是其恒定特征。