Poland anomaly - Report of an unusual family

被引:15
|
作者
Shalev, SA [1 ]
Hall, JG [1 ]
机构
[1] British Columbia Childrens Hosp, Dept Med Genet & Pediat, Vancouver, BC V6H 3V4, Canada
关键词
Poland anomaly; familial; etiology; thrombophilia; vascular disruption;
D O I
10.1002/ajmg.a.10145
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A family with classical Poland anomaly presenting in the son and a partially affected mother is reported. We hypothesize that Poland anomaly has a multifactorial basis involving vascular compromise in early development. Two possible predisposing factors are aberrant vascular formation and thrombophilia. The investigation of our family has not demonstrated an abnormality in coagulation, therefore, we surmise that an inherited structural variant of blood vessel formation is responsible. (C) 2003 Wiley-Liss, Inc.
引用
收藏
页码:180 / 183
页数:4
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