Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome

被引:16
作者
Feingold, M [1 ]
机构
[1] Natl Birth Defects Ctr, Waltham, MA 02451 USA
关键词
Floating-Harbor syndrome; diagnosis of Floating-Harbor syndrome;
D O I
10.1002/ajmg.a.31159
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A 32-year follow-up of the first patient reported with the Floating-Harbor syndrome is discussed. He has been in good overall health. His facial appearance, a hallmark of this syndrome, had remained fairly characteristic except for some changes secondary to age. While he does have mild to moderate mental retardation, he has been employed for the past 15 years. Because no laboratory tests are presently available to diagnose the Floating-Harbor syndrome, the author recommends that the typical facial features present in the first two patients reported with this syndrome be present before the diagnosis can be made. (c) 2006 Wiley-Liss, Inc.
引用
收藏
页码:782 / 784
页数:3
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