两例伴有此前未描述异常的汤姆斯-布罗克斯综合征病例。

Two cases of Townes-Brocks syndrome with previously undescribed anomalies.

作者信息

Marlin S, Toublanc J E, Petit C

出版信息

Clin Dysmorphol. 1998 Oct;7(4):295-8. doi: 10.1097/00019605-199810000-00011.

DOI:10.1097/00019605-199810000-00011

Abstract

Townes-Brocks syndrome is characterized by the association of anorectal, radial ray and outer ear malformations and deafness. We describe two patients affected with several typical clinical signs of Townes-Brocks syndrome in addition to growth and puberty delays and vertebral anomalies not previously reported.

摘要

汤姆斯-布罗克斯综合征的特征是肛门直肠、桡骨射线、外耳畸形以及耳聋并存。我们描述了两名患者，他们除了有生长和青春期延迟以及此前未报道过的脊柱异常外，还出现了汤姆斯-布罗克斯综合征的几种典型临床体征。