本综合征在1977年由Pallister首先描述,1981年Killian和Feschler-Nicola分别报道,它的一些早期病例被误认为是21q四体嵌合体。本文报告这个综合征的一些临床特征和其细胞遗传学原理。临床体征:病人颜面粗陋,程度随年龄增长愈加显著;前额隆起、额部发际高,颞部正面毛发稀疏或秃发;常有蹼颈。病人眼部畸形,有时可见小眼球。大约1/4的病人患先天性心脏病。VSD最常发生。在膈缺损的病例中都发现继发性肺发育不良,造成膈疝的先天性膈膜缺损特 The Syndrome was first described by Pallister in 1977, and Killian and Feschler-Nicola in 1981 reported that some of its earlier cases were mistaken for the 21q tetrasosome. This article reports some of the clinical features of this syndrome and its cytogenetics. Clinical signs: the patient face rough, the degree of increase with age more pronounced; forehead uplift, forehead hairline high, temporal frontal hair thinning or alopecia; often have webbed neck. Ocular malformations in patients, sometimes seen in small eyes. Approximately one in four patients have congenital heart disease. VSD occurs most often. In the case of diaphragmatic defects were found in secondary lung dysplasia, resulting in diaphragmatic hernia congenital septal defect