Furlong J, Kurczynski T W, Hennessy J R
Am J Med Genet. 1987 Mar;26(3):599-604. doi: 10.1002/ajmg.1320260314.
We report on a patient with various connective tissue abnormalities suggesting a distinctive disorder combining some features of the Marfan syndrome with craniosynostosis and other anomalies. A comparison is made with the Marfan syndrome and other phenotypically similar conditions.
我们报告了一名患有多种结缔组织异常的患者,提示一种独特的疾病,该疾病结合了马凡综合征的一些特征、颅缝早闭及其他异常。文中将该疾病与马凡综合征及其他表型相似的疾病进行了比较。