Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
Autor: | Robert Śmigiel, Lech Dudarewicz, Agnieszka Stembalska |
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Rok vydání: | 2021 |
Předmět: |
Pathology
medicine.medical_specialty Thanatophoric Dysplasia Thanatophoric dysplasia Cartilage disorder Medicine (miscellaneous) Osteochondrodysplasias General Biochemistry Genetics and Molecular Biology Ultrasonography Prenatal Pregnancy Internal Medicine Medicine Humans Receptor Fibroblast Growth Factor Type 3 Pharmacology (medical) Achondroplasia Genetics (clinical) business.industry Achondrogenesis Infant Newborn Osteogenesis Imperfecta medicine.disease Campomelic dysplasia Dysplasia Reviews and References (medical) Fibrochondrogenesis Female business Osteogenesis Imperfecta Type II |
Zdroj: | Advances in clinical and experimental medicine : official organ Wroclaw Medical University. 30(6) |
ISSN: | 1899-5276 |
Popis: | 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. |
Databáze: | OpenAIRE |
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