Tibial aplasia - VACTERL association, a new syndrome?

被引：10

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

页码：205 / 208

页数：4

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