The phenotype of fibrodysplasia ossificans progressiva

被引：83

作者：

Kaplan F.S. ^{[1
,2
,4
,12
]}

Glaser D.L. ^{[1
,4
]}

Shore E.M. ^{[1
,3
,4
]}

Deirmengian G.K. ^{[1
,4
]}

Gupta R. ^{[1
,4
]}

Delai P. ^{[5
]}

Morhart R. ^{[6
]}

Smith R. ^{[7
]}

Le Merrer M. ^{[8
]}

Rogers J.G. ^{[9
]}

Connor J.M. ^{[10
]}

Kitterman J.A. ^{[11
]}

机构：

[1] Departments of Orthopaedic Surgery, University of Pennsylvania, School of Medicine, Philadelphia, PA

[2] Departments of Medicine, University of Pennsylvania, School of Medicine, Philadelphia, PA

[3] Departments of Genetics, University of Pennsylvania, School of Medicine, Philadelphia, PA

[4] Center for Research in FOP and Related Disorders, University of Pennsylvania, School of Medicine, Philadelphia, PA

[5] University of Santa Casa de Misericordia, São Paolo School of Medicine, São Paolo

[6] KinderKlinik, Klinikum Garmisch-PartenKirchen

[7] Nuffield Orthopaedic Centre, Headington, Oxford

[8] Hôpital Necker, Paris

[9] Royal Children's Hospital Genetics Clinic, Royal Children's Hospital, Melbourne, Vic.

[10] Duncan Guthrie Institute of Medical Genetics, University of Glasgow Medical School, Glasgow

[11] Department of Pediatrics, Cardiovascular Research Institute, University of California, San Francisco, CA

[12] Department of Orthopaedic Surgery, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, Silverstein Two

来源：

Clinical Reviews in Bone and Mineral Metabolism | 2005年 / 3卷 / 3-4期

关键词：

Bone morphogenetic protein (BMP)-signaling pathway; Fibrodysplasia ossificans progressiva (FOP); Heterotopic ossification; Malformed great toes;

D O I：

10.1385/BMM:3:3-4:183

中图分类号：

学科分类号：

摘要：

The phenotype of fibrodysplasia ossificans progressiva (FOP) includes two defining features: congenital malformation of the great toes and progressive heterotopic ossification in characteristic anatomic patterns. Additional common features include proximal medial tibial osteochondromas, orthotopic fusions of the posterior elements of the cervical spine, broad short femoral necks, and conductive hearing loss. The FOP phenotype supports that the primary molecular pathology involves the bone morphogenetic protein (BMP)-signaling pathway directly or a BMP-interacting pathway. © Copyright 2005 by Humana Press Inc. All rights of any nature whatsoever reserved.

引用

页码：183 / 188

页数：5

共 36 条

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[2]

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[3]

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[4]

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[6]

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[7]

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[8]

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[9]

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[10]

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