Yu Chung-Chih, Wong Fen-Hwa, Lo Lun-Jou, Chen Yu-Ray
Craniofacial Center, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Taipei, Taiwan.
Cleft Palate Craniofac J. 2002 May;39(3):376-9. doi: 10.1597/1545-1569_2002_039_0376_hclpaw_2.0.co_2.
The association of cleft lip/palate (CLP) with other anomalies is not uncommon, but its association with Wilms tumor (WT) is very rare, especially in a familial pattern. In this report, we present a family in which six members in two generations were affected with CLP, WT, or both.
A male patient presented with right complete CLP. He had a family history of facial cleft and abdominal tumor. Lip repair was performed at 3 months of age. An abdominal mass was noticed at 12 months of age, which proved to be WT. Surgical excision of the tumor and chemotherapy were conducted. He subsequently underwent palate repair. His father had an unrepaired microform cleft lip. Three of his aunts were known to have similar problems: one had both facial cleft and WT, one had WT only, and the other had facial cleft only. One of his cousins also was affected with WT.
This is a unique family affected with a rare association of CLP and WT. Pedigree study revealed an autosomal dominant hereditary pattern.
唇腭裂（CLP）与其他异常的关联并不罕见，但其与肾母细胞瘤（WT）的关联非常罕见，尤其是呈家族性模式。在本报告中，我们介绍了一个家族，两代人中的六名成员患有CLP、WT或两者皆有。
一名男性患者表现为右侧完全性CLP。他有面部裂和腹部肿瘤的家族史。在3个月大时进行了唇修复。12个月大时发现腹部肿块，经证实为WT。进行了肿瘤的手术切除和化疗。随后他接受了腭裂修复。他的父亲有未修复的微小型唇裂。他的三位姑姑有类似问题：一位既有面部裂又有WT，一位只有WT，另一位只有面部裂。他的一位表亲也患有WT。
这是一个受CLP和WT罕见关联影响的独特家族。系谱研究揭示了常染色体显性遗传模式。
