Osteogenesis imperfecta: Diagnosis and treatment

被引：34

作者：

Burnei, Gheorghe ^{[1
,2
]}

Vlad, Costel ^{[2
]}

Georgescu, Ileana ^{[2
]}

Gavriliu, Traian Stefan ^{[2
]}

Dan, Daniela ^{[2
]}

机构：

[1] Univ Med & Pharm Carol Davila, Bucharest, Romania

[2] Marie Sklodowska Curie Childrens Emergency Hosp, Dept Paediat, Bucharest, Romania

来源：

JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS | 2008年 / 16卷 / 06期

关键词：

D O I：

10.5435/00124635-200806000-00008

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

Osteogenesis imperfecta is a heritable disorder characterized by extremely fragile bones, blue sclerae, dentinogenesis imperfecta, hearing loss, and scoliosis. In 1979, Sillence classified the condition into four types based on genetic and clinical criteria. Three more classifications have subsequently been added. Diagnosis of osteogenesis imperfecta may be done prenatally (in severe cases), clinically, radiographically, or via biochemical or genetic examination. Medical treatment consists of bisphosphonate use, even in patients younger than age 2 years. Surgical treatment consists of internal splinting of long bones. Research is currently being done on the use of smart intramedullary rods (ie, composed of nitinol shape-memory alloy) for correction of bone deformity and on the use of bone marrow transplantation to increase osteoblast density, thereby reducing fracture frequency.

引用

页码：356 / 366

页数：11

共 53 条

[1] High prevalence of coxa vara in patients with severe osteogenesis imperfecta [J].

Aarabi, M ;

Rauch, F ;

Hamdy, RC ;

Fassier, F .

JOURNAL OF PEDIATRIC ORTHOPAEDICS, 2006, 26 (01) :24-28

[2] Brief report: Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta [J].

Barnes, Aileen M. ;

Cliang, Weizhong ;

Morello, Roy ;

Cabral, Wayne A. ;

Weis, MaryAnn ;

Eyre, David R. ;

Leikin, Sergey ;

Makareeva, Elena ;

Kuznetsova, Natalia ;

Uveges, Thomas E. ;

Ashok, Aarthi ;

Flor, Armando W. ;

Mulvihill, John J. ;

Wilson, Patrick L. ;

Sundaram, Usha T. ;

Lee, Brendan ;

Marini, Joan C. .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (26) :2757-2764

[3]

Basu P S, 2001, Spine (Phila Pa 1976), V26, pE506, DOI 10.1097/00007632-200111010-00022

[4]

Buisson O, 2002, J Gynecol Obstet Biol Reprod (Paris), V31, P672

[5] Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta [J].

Cabral, Wayne A. ;

Chang, Weizhong ;

Barnes, Aileen M. ;

Weis, MaryAnn ;

Scott, Melissa A. ;

Leikin, Sergey ;

Makareeva, Elena ;

Kuznetsova, Natalia V. ;

Rosenbaum, Kenneth N. ;

Tifft, Cynthia J. ;

Bulas, Dorothy I. ;

Kozma, Chahira ;

Smith, Peter A. ;

Eyre, David R. ;

Marini, Joan C. .

NATURE GENETICS, 2007, 39 (03) :359-365

[6]

Chockalingam S, 2002, J PEDIATR ORTHOPED, V22, P117

[7]

Chotigavanichaya C, 2001, J PEDIATR ORTHOPED, V21, P515

[8] Intrafamilial Variable expressivity of osteogenesis imperfecta due to mosaicism for a lethal G382R substitution in the COL1A1 gene [J].

CohenSolal, L ;

Zolezzi, F ;

Pignatti, PF ;

Mottes, M .

MOLECULAR AND CELLULAR PROBES, 1996, 10 (03) :219-225

[9] The human type I collagen mutation database [J].

Dalgleish, R .

NUCLEIC ACIDS RESEARCH, 1997, 25 (01) :181-187

[10] Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta [J].

DiMeglio, LA ;

Peacock, M .

JOURNAL OF BONE AND MINERAL RESEARCH, 2006, 21 (01) :132-140

← 1 2 3 4 5 6 →