Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.
Am J Med Genet A. 2010 Mar;152A(3):737-40. doi: 10.1002/ajmg.a.33273.
Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC.
淋巴管瘤-睫毛过多综合征是一种罕见的原发性淋巴水肿，呈常染色体显性遗传。其特征性表现为发病较晚的淋巴水肿和睫毛过多，同时还伴有其他偶尔出现的特征，包括静脉曲张、腭裂、上睑下垂和先天性心脏病。FOXC2 基因被发现与该综合征有关。我们在此报告首例泰国患者，其具有该综合征的特征性表现，以及不常见的表现，包括舌系带过短和 Robin 序列，包括舌下垂、腭裂和小颌畸形。FOXC2 的突变分析显示 c.595-596insC。
