Fischbach Bernard V, Trout Kelly L, Lewis Julia, Luis Catherine A, Sika Mohammed
Division of Nephrology, Department of Medicine, Vanderbilt Medical Center, Nashville, Tennessee, USA.
Pediatrics. 2005 Oct;116(4):984-8. doi: 10.1542/peds.2004-0467.
WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established, the large variety of phenotypic manifestations of the syndrome has never been reported. We report on 54 cases of WAGR syndrome to demonstrate both the classical clinical signs and nonclassical manifestations found in a large population of individuals with this disorder. An understanding of WAGR syndrome and its clinical findings can provide important insight regarding the functions of the involved genetic region. Recommendations for diagnosis, evaluation, and surveillance of patients with WAGR syndrome are also presented.
WAGR综合征是一种罕见的遗传性疾病，其特征为11p13发生新生缺失，临床上与肾母细胞瘤、无虹膜、泌尿生殖系统异常及智力发育迟缓（W-A-G-R）相关。尽管WAGR综合征的基因型缺陷已得到充分证实，但该综合征多种多样的表型表现此前从未有过报道。我们报告了54例WAGR综合征病例，以展示在大量患有该疾病的个体中发现的经典临床体征和非经典表现。了解WAGR综合征及其临床发现可为相关基因区域的功能提供重要见解。本文还提出了针对WAGR综合征患者的诊断、评估及监测建议。
