POLYSYNDACTYLY AND ASYMPTOMATIC HYPOTHALAMIC HAMARTOMA IN MOTHER AND SON - A VARIANT OF PALLISTER-HALL SYNDROME

被引：0
|
作者：
LOW, M
MORINGLANE, JR
REIF, J
BARBIER, D
BEIGE, G
KOLLES, H
KUJAT, C
ZANG, KD
HENN, W
机构：
[1] UNIV SAARLAND,NEUROSURG CLIN,W-6650 HOMBURG,GERMANY
[2] UNIV SAARLAND,INST NEUROPATHOL,W-6650 HOMBURG,GERMANY
[3] UNIV SAARLAND,INST NEURORADIOL,W-6650 HOMBURG,GERMANY
来源：
CLINICAL GENETICS | 1995年 / 48卷 / 04期
关键词：
AUTOSOMAL DOMINANT INHERITANCE; HAMARTOMA; PALLISTER-HALL SYNDROME; POLYSYNDACTYLY;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a 53-year-old woman and her 20-year-old son who both presented with polysyndactyly, without other external malformations or mental retardation. MRI imaging revealed, as an incidental finding, asymptomatic hypothalamic hamartomas in both patients. The siblings of both mother and son are unaffected. This family may represent an autosomal dominant variant of Pallister-Hail syndrome.
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收藏
页码：209 / 212
页数：4
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