Cohen M M, Gorlin R J
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Am J Med Genet. 1991 Aug 1;40(2):159-66. doi: 10.1002/ajmg.1320400208.
A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.
本文报告了一例努南样/多发性巨细胞病变综合征患者，并对14例患者的检查结果进行了回顾。显著的临床表现包括身材矮小、智力略低于正常水平或发育迟缓、眼距过宽、耳朵后倾突出、骨骼、关节和/或软组织的巨细胞病变、漏斗胸和肺动脉狭窄。由于各医学专家的诊断不完整或不准确，导致该综合征的确诊存在困难。
