Skeletal Abnormalities in Neurofibromatosis Type 1: Approaches to Therapeutic Options

被引：115

作者：

Elefteriou, Florent ^{[1
]}

Kolanczyk, Mateusz ^{[2
,3
]}

Schindeler, Aaron ^{[4
,5
]}

Viskochil, David H. ^{[6
,7
]}

Hock, Janet M. ^{[8
]}

Schorry, Elizabeth K. ^{[9
]}

Crawford, Alvin H. ^{[10
]}

Friedman, Jan M. ^{[11
]}

Little, David ^{[4
,5
]}

Peltonen, Juha ^{[12
,13
]}

Carey, John C. ^{[6
,7
]}

Feldman, David ^{[14
]}

Yu, Xijie ^{[8
]}

Armstrong, Linlea ^{[11
]}

Birch, Patricia ^{[11
]}

Kendler, David L. ^{[15
]}

Mundlos, Stefan ^{[2
,3
]}

Yang, Fen-Chun ^{[16
,17
]}

Agiostratidou, Gina ^{[18
]}

Hunter-Schaedle, Kim ^{[18
]}

Stevenson, David A. ^{[6
,7
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Dept Med, Vanderbilt Ctr Bone Biol, Nashville, TN 37232 USA

[2] FG Dev & Dis, Max Planck Inst Mol Genet, Berlin, Germany

[3] Univ Med Berlin, Charite, Inst Med Genet, Berlin, Germany

[4] Childrens Hosp Westmead, Dept Orthopaed Res & Biotechnol, Sydney, NSW, Australia

[5] Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia

[6] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT USA

[7] Shriners Hosp Children, Salt Lake City, UT USA

[8] Maine Inst Human Genet & Hlth, Brewer, ME USA

[9] Cincinnati Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH USA

[10] Cincinnati Childrens Hosp, Med Ctr, Dept Orthoped, Cincinnati, OH USA

[11] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada

[12] Univ Turku, Dept Cell Biol & Anat, Turku, Finland

[13] Univ Turku, Dept Dermatol, Turku, Finland

[14] NYU, Hosp Joint Dis, Dept Orthoped Surg, New York, NY USA

[15] Univ British Columbia, Dept Med, Vancouver, BC, Canada

[16] Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN USA

[17] Indiana Univ Sch Med, Herman B Wells Ctr Pediat Res, Indianapolis, IN USA

[18] Childrens Tumor Fdn, New York, NY USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 10期

关键词：

neurofibromatosis; NF1; bone; skeletal dysplasia; osteoblast; osteoclast; tibial dysplasia; pseudarthrosis; BONE-MINERAL-DENSITY; TERM-FOLLOW-UP; CONGENITAL PSEUDOARTHROSIS; TIBIAL PSEUDOARTHROSIS; MORPHOGENETIC PROTEIN; DESCRIPTIVE ANALYSIS; INTRAMEDULLARY ROD; SPINAL DEFORMITIES; EPOS MULTICENTER; NF1; GENE;

D O I：

10.1002/ajmg.a.33045

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

The skeleton is frequently affected in individuals with neurofibromatosis type 1, and some of these bone manifestations can result in significant morbidity. The natural history and pathogenesis of the skeletal abnormalities of this disorder are poorly understood and consequently therapeutic options for these manifestations are currently limited. The Children's Tumor Foundation convened an International Neurofibromatosis Type I Bone Abnormalities Consortium to address future directions for clinical trials in skeletal abnormalities associated with this disorder. This report reviews the clinical skeletal manifestations and available preclinical mouse models and summarizes key issues that present barriers to optimal clinical management of skeletal abnormalities in neurofibromatosis type 1. These concepts should help advance optimal clinical management of the skeletal abnormalities in this disease and address major difficulties encountered for the design of clinical trials. (C) 2009 Wiley-Liss, Inc.

引用

页码：2327 / 2338

页数：12

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