Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
复制标题
DOI：
10.1002/ajmg.a.32269
复制
发表时间：
2008-08-01
影响因子：
2
通讯作者：
Rimoin, David L.
中科院分区：
文献类型：
--
作者：
Krakow, Deborah;Alanay, Yasemin;Rimoin, Lauren P.;Lin, Victoria;Wilcox, William R.;Lachman, Ralph S.;Rimoin, David L.
骨软骨发育不良或骨骼发育不良是超过350种不同的骨骼发生疾病的异质组。许多表现在产前时期，使他们适合超声产前诊断。一项回顾性分析评估了1,500例国际骨软骨发育不良登记处（ISDR）的病例，以确定特定骨软骨发育不良的相对频率以及超声与放射学诊断这些疾病的相关性。在1,500例病例的回顾性队列中，85%的转诊病例代表明确的骨骼发育不良，另外15%的病例是遗传综合征和可能的早发性宫内生长受限的混合物。三种最常见的产前发病的骨骼发育不良是成骨不全2型，致死性发育不良和软骨发育不全2，占近40%的情况下。在对500例使用标准化超声方法评价这些疾病的病例进行的前瞻性分析中，成骨不全2型、致死性发育不良和软骨发育不全2型的相对频率与回顾性分析相似。本研究详细介绍了特定的产前发病骨软骨发育不良的相对频率，其异质性的产前发病骨骼疾病，并提供了一个标准化的产前超声方法，这些疾病应有助于产前诊断胎儿怀疑表现骨骼发育不良。
The osteochondrodysplasias or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal period, making them amenable to ultrasound prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred to the International Skeletal Dysplasia Registry (ISDR) to determine the relative frequency of specific osteochondrodysplasias and correlation of ultrasound versus radiographic diagnoses for these disorders. Within the retrospective cohort of 1,500 cases, 85% of the referred cases represented well-defined skeletal dysplasias, and the other 15% of cases were a mixture of genetic syndromes and probable early-onset intrauterine growth restriction. The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases. In a prospective analysis of 500 cases using a standardized ultrasound approach to the evaluation of these disorders, the relative frequencies of osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2 were similar to the retrospective analysis. This study details the relative frequencies of specific prenatal-onset osteochondrodysplasias, their heterogeneity of prenatal-onset skeletal disorders and provides a standardized prenatal ultrasound approach to these disorders which should aid in the prenatal diagnosis of fetuses suspected of manifesting skeletal dysplasias.
登录
查看更多内容
影响因子：
2
作者：
Superti-Furga, Andrea;Unger, Sheila
通讯作者：
Unger, Sheila
影响因子：
2.1
作者：
Shum, Lillian;Coleman, Cynthia M.;Tuan, Rocky S.
通讯作者：
Tuan, Rocky S.
影响因子：
5.3
作者：
Sutton, VR;McAlister, WH;Villar, AJ
通讯作者：
Villar, AJ
影响因子：
1.5
作者：
Bahado-Singh, Ray O.;Raymond, Marilyn
通讯作者：
Raymond, Marilyn
影响因子：
2.1
作者：
Eames, B. Frank;de la Fuente, Luis;Helms, Jill A.
通讯作者：
Helms, Jill A.