Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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Advances in Clinical and Experimental Medicine

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doi: 10.17219/acem/134166

Publication type: review article

Language: English

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Lethal and life-limiting skeletal dysplasias: Selected prenatal issues

Agnieszka Stembalska1,A,B,C,D,E,F, Lech Dudarewicz2,D,E, Robert Śmigiel3,D,E,F

1 Department of Genetics, Wroclaw Medical University, Poland

2 Department of Genetics, Polish Mother’s Memorial Hospital Research Institute, Łódź, Poland

3 Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Poland


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.

Key words

prenatal diagnostic, skeletal dysplasia, lethal, life-limiting

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