Department of Genetics, Wroclaw Medical University, Poland.
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Łódź, Poland.
Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166.
Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.
骨骼发育不良是一组具有遗传病因的先天性骨骼和软骨疾病，具有异质性。目前骨骼发育不良的分类将 42 组中的 461 种疾病区分开来。所有骨骼发育不良的发病率超过每 5000 名新生儿中的 1 例。发育不良的类型和相关异常影响骨骼发育不良的致死率、存活率和长期预后。区分骨骼发育不良并正确诊断疾病以建立预后并实现更好的管理至关重要。可以使用产前超声观察致死性的预测指标，例如钟形胸廓、肋骨短、股骨严重缩短和肺容积减少。个体致死性或生命受限的发育不良在产前超声上可能具有或多或少的特异性特征。本文讨论了最常见的骨骼发育不良，如致死性发育不良、成骨不全症 II 型、软骨发育不全和Campomelic 发育不良的产前特征。还讨论了不太常见的发育不良，如窒息性胸廓发育不良、纤维软骨发育不良、成骨不全和纯合性软骨发育不全。
