Preus M
J Ment Defic Res. 1984 Sep;28 ( Pt 3):235-8. doi: 10.1111/j.1365-2788.1984.tb01015.x.
The diagnosis of Börjeson-Forssman-Lehmann syndrome in a patient reported by Veall et al. (1979) is challenged. The clinical findings were compared with those in 32 patients with the Noonan syndrome using the extensive description, dermatoglyphics, photographs and anthropometric measurements provided in the paper. The patient's findings are compatible with the Noonan syndrome based on his overall phenotypic similarity to the 32 patients, even though the severity of his mental retardation is atypical.
维尔等人(1979年)报告的一名患者的博耶森-福斯曼-莱曼综合征诊断受到质疑。根据该论文中提供的详细描述、皮纹学、照片和人体测量数据,将该患者的临床发现与32名努南综合征患者的临床发现进行了比较。尽管该患者智力发育迟缓的严重程度不典型,但基于他与32名患者整体表型相似性,其临床发现与努南综合征相符。