REGIONAL PROTEUS-SYNDROME AND SOMATIC MOSAICISM

被引：26

作者：

SMEETS, E

FRYNS, JP

COHEN, MM

机构：

[1] DALHOUSIE UNIV,FAC DENT,DEPT ORAL BIOL,HALIFAX B3H 3J5,NS,CANADA

[2] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM

[3] DALHOUSIE UNIV,FAC MED,DEPT PEDIAT,HALIFAX B3H 3J5,NS,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 51卷 / 01期

关键词：

MULTIPLE HYPEROSTOSES; SCLERAL TUMOR; MOSAIC DISTRIBUTION;

D O I：

10.1002/ajmg.1320510107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose. (C) 1994 Wiley-Liss, Inc.

引用

页码：29 / 31

页数：3

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