Tibial aplasia - VACTERL association, a new syndrome?

被引：9
|
作者：
Basel, D [1 ]
Goldblatt, J
机构：
[1] Univ Cape Town, Sch Med, Dept Human Genet, ZA-7925 Rondebosch, South Africa
[2] King Edward Mem Hosp, Genet Serv Western Australia, Subiaco, WA, Australia
来源：
CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 03期
关键词：
tibial aplasia; skeletal dysplasia; VACTERL;
D O I：
10.1097/00019605-200009030-00010
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a male infant, born to nonconsanguineous parents, with a vertebral anomaly, cardiac defect, tracheooesophageal fistula and hypospadias (VACTERL association) together with bilateral tibial aplasia. This pattern of abnormalities appears to represent a unique syndrome. Clin Dysmorphol 9: 205-208 (C) 2000 Lippincott Williams & Wilkins.
引用
收藏
页码：205 / 208
页数：4
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