ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PROTEUS SYNDROME, AND SOMATIC MOSAICISM

被引:34
作者
RIZZO, R
PAVONE, L
MICALI, G
NIGRO, F
COHEN, MM
机构
[1] DALHOUSIE UNIV,FAC DENT,DEPT ORAL BIOL,HALIFAX B3H 3J5,NS,CANADA
[2] DALHOUSIE UNIV,DEPT PEDIAT,HALIFAX B3H 3J5,NS,CANADA
[3] UNIV CATANIA,PEDIAT CLIN,I-95124 CATANIA,ITALY
[4] UNIV CATANIA,DERMATOL CLIN,I-95124 CATANIA,ITALY
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 05期
关键词
VISCERAL LIPOMATOSIS; HYPEROSTOSIS;
D O I
10.1002/ajmg.1320470515
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:653 / 655
页数:3
相关论文
共 12 条
[1]   THE MULTIPLE MANIFESTATIONS OF THE ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS SYNDROME [J].
ALMEFTY, O ;
FOX, JL ;
SAKATI, N ;
BASHIR, R ;
PROBST, F .
CHILDS NERVOUS SYSTEM, 1987, 3 (02) :132-134
[2]  
BAMFORTH J S G, 1989, Neurofibromatosis, V2, P166
[3]  
BAMFORTH JS, 1988, P GREENWOOD GENET CT, V7, P146
[4]   PICTURE OF THE MONTH - ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS [J].
BITOUN, P ;
GELLIS, S ;
FEINGOLD, M .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1982, 136 (12) :1085-1086
[5]   PROTEUS SYNDROME - CLINICAL-EVIDENCE FOR SOMATIC MOSAICISM AND SELECTIVE REVIEW [J].
COHEN, MM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (05) :645-652
[6]  
FISHMAN MA, 1978, PEDIATRICS, V61, P580
[7]   ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS . A NEW EXAMPLE OF ECTOMESODERMAL DYSGENESIS [J].
HABERLAND, C ;
PEROU, M .
ARCHIVES OF NEUROLOGY, 1970, 22 (02) :144-+
[8]   ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS AND THE PROTEUS SYNDROME - DISTINCT ENTITIES WITH OVERLAPPING MANIFESTATIONS [J].
MCCALL, S ;
RAMZY, MI ;
CURE, JK ;
PAI, GS .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (04) :662-668
[9]   ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS - A NEW NEUROCUTANEOUS SYNDROME [J].
SANCHEZ, NP ;
RHODES, AR ;
MANDELL, F ;
MIHM, MC .
BRITISH JOURNAL OF DERMATOLOGY, 1981, 104 (01) :89-96
[10]  
SCHLACK HG, 1985, MONATSSCHR KINDERH, V133, P235