EXTENDING THE PALLISTER-HALL SYNDROME TO INCLUDE OTHER CENTRAL-NERVOUS-SYSTEM MALFORMATIONS

被引:20
作者
FINNIGAN, DP
CLARREN, SK
HAAS, JE
机构
[1] UNIV WASHINGTON,SCH MED,DEPT PEDIAT RD20,SEATTLE,WA 98195
[2] UNIV WASHINGTON,SCH MED,DEPT PATHOL,SEATTLE,WA 98195
[3] UNIV WASHINGTON,SCH MED,DIV EMBRYOL TERATOL & CONGENITAL DIS,SEATTLE,WA 98195
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 04期
关键词
CNS MALFORMATIONS; ANOMALIES; ANTERIOR DIENCEPHALON;
D O I
10.1002/ajmg.1320400403
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:395 / 400
页数:6
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