Thauvin-Robinet C, De Monléon J V, Nivelon-Chevallier A, Petit A, Huet F
Centre de Génétique, Hĵpital d'Enfants, Dijon, France.
J Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1661-3. doi: 10.1515/jpem.2001.14.9.1661.
We report on a 12 year-old girl with severe myopia, ectopia lentis, dilatation of the ascending aorta, protrusio acetabulae, arachnodactyly, scoliosis and moderate short stature (-1.7 SD). Her sister and father presented with Marfan's syndrome. Despite short stature, Marfan's syndrome could not be ruled out. Primary amenorrhoea and growth retardation indicated cytogenetic analysis which showed chromosomal aberration 45,X in every studied cell. However, she did not present any other clinical features of Turner's syndrome. We report here for the first time on an association of Turner's syndrome and Marfan's syndrome in the same patient, and discuss particular clinical features.
我们报告了一名12岁女孩，患有严重近视、晶状体异位、升主动脉扩张、髋臼前突、蜘蛛指、脊柱侧弯和中度身材矮小（-1.7标准差）。她的姐姐和父亲患有马凡综合征。尽管身材矮小，但不能排除马凡综合征。原发性闭经和生长发育迟缓提示进行细胞遗传学分析，结果显示每个研究细胞中的染色体畸变均为45,X。然而，她并未表现出特纳综合征的任何其他临床特征。我们首次在此报告同一患者中特纳综合征与马凡综合征的关联，并讨论其特殊的临床特征。
