Finnigan D P, Clarren S K, Haas J E
Division of Embryology, Teratology, and Congenital Defects, University of Washington School of Medicine, Seattle 98195.
Am J Med Genet. 1991 Sep 15;40(4):395-400. doi: 10.1002/ajmg.1320400403.
Hall-Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall-Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall-Pallister syndrome.
霍尔-帕利斯特综合征的定义为特定的面部异常、轴后多指畸形、肛门闭锁以及脑部异常,包括罕见的间脑肿块、下丘脑错构瘤。本文描述了两名具有霍尔-帕利斯特综合征常见特征的患者,包括间脑异常,但无错构瘤。这些患者可能提示霍尔-帕利斯特综合征定义的适当扩展。