Smith T F, Engel E
South Med J. 1981 May;74(5):630-2. doi: 10.1097/00007611-198105000-00034.
A 2-year-old girl with Marfan's syndrome also had recurrent episodes of upper respiratory infection, otitis media, tonsillitis, and asthma. Chromosomal study revealed the karyotype 47,XXX. Immunologic evaluation showed lack of delayed hypersensitivity skin test response despite previous exposure. The coincidence of Marfan's syndrome and either XXX or immunologic dysfunction has not been reported previously. This case clearly illustrates that more than one abnormality may occur in a single patient.
一名患有马凡氏综合征的2岁女孩还反复出现上呼吸道感染、中耳炎、扁桃体炎和哮喘。染色体研究显示核型为47，XXX。免疫学评估显示，尽管之前有过接触，但迟发性超敏皮肤试验反应缺乏。马凡氏综合征与XXX或免疫功能障碍同时出现的情况此前尚未见报道。该病例清楚地表明，单个患者可能出现不止一种异常情况。
