Is Cardiac Rhabdomyoma a Feature of Birt Hogg Dube Syndrome?

被引：12

作者：

Bondavalli, Davide ^{[1
,2
,3
]}

White, Susan M. ^{[4
,5
]}

Steer, Andrew ^{[2
,5
,6
]}

Pflaumer, Andreas ^{[4
,5
,7
]}

Winship, Ingrid ^{[1
,2
]}

机构：

[1] Royal Melbourne Hosp, Genet Med & Family Canc Clin, Melbourne, Vic 3050, Australia

[2] Univ Melbourne, Royal Melbourne Hosp, Dept Med, Melbourne, Vic 3050, Australia

[3] Univ Genoa, Med Genet Sect, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Genoa, Italy

[4] Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia

[5] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[6] Murdoch Childrens Res Inst, Grp Streptococcal Res Grp A, Melbourne, Vic, Australia

[7] Royal Childrens Hosp, Dept Cardiol, Melbourne, Vic, Australia

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 04期

关键词：

cancer genetics; BHD; TUBEROUS SCLEROSIS COMPLEX; TUMORS; PNEUMOTHORAX; FAMILIES; CHILDREN; GENE;

D O I：

10.1002/ajmg.a.36917

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed clinically nor genetically. Coincidentally, Birt Hogg Dube syndrome (BHD) had been previously diagnosed in members of the extended family; this prompted a diagnostic re-evaluation of the child who was found to have the known family FLCN mutation. We recommend consideration of cardiac rhabdomyomas as part of the clinical BHD spectrum. (c) 2015 Wiley Periodicals, Inc.

引用

收藏

页码：802 / 804

页数：3

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