AUTOSOMAL-DOMINANT TRANSMISSION OF THE PALLISTER-HALL SYNDROME

被引：36

作者：

TOPF, KF

KLETTER, GB

KELCH, RP

BRUNBERG, JA

BIESECKER, LG

机构：

[1] UNIV MICHIGAN, MED CTR, DEPT HUMAN GENET, ANN ARBOR, MI 48109 USA

[2] UNIV MICHIGAN, MED CTR, DEPT PEDIAT, ANN ARBOR, MI 48109 USA

[3] UNIV MICHIGAN, MED CTR, DEPT RADIOL, ANN ARBOR, MI 48109 USA

来源：

JOURNAL OF PEDIATRICS | 1993年 / 123卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(05)80392-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe a 9-year-old boy and his 34-year-old father with the Pallister-Hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the Pallister-Hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.

引用

页码：943 / 946

页数：4

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