Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of Rasmussen syndrome

被引:9
作者
Julia, S
Pedespan, JM
Boudard, P
Barbier, R
Gavilan-Cellie, I
Chateil, JF
Lacombe, D
机构
[1] CHU Pellegrin Enfants, Dept Med Genet, F-33076 Bordeaux, France
[2] CHU Pellegrin, Dept Neuropediat, Bordeaux, France
[3] CHU Pellegrin, Dept ORL, Bordeaux, France
[4] CHU Pellegrin, Dept Audiol, Bordeaux, France
[5] CHU Pellegrin, Dept Radiol, Bordeaux, France
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 02期
关键词
Rasmussen syndrome; external auditory canal atresia; conductive deafness; autosomal dominant inheritance;
D O I
10.1002/ajmg.10433
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In 1979, Rasmussen et al. reported six members of a family with congenital, bilateral, symmetrical, and isolated subtotal atresia of the external auditory canal, bilateral foot abnormalities, and increased interocular distance. The family history suggested autosomal dominant inheritance of the syndrome. We report a 3-year-old girl whose symptoms are compatible with this diagnosis. Therefore, we suggest confirmation of the description by Rasmussen et al. as a distinct entity and suggest the term Rasmussen syndrome for this condition. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:179 / 181
页数:3
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