What Is New in Prenatal Skeletal Dysplasias?
AJR Am J Roentgenol. 2018 May;210(5):1022-1033. doi: 10.2214/AJR.17.19337. Epub 2018 Mar 12. Victoria T1, Zhu X1, Lachman R2, Epelman M3, Oliver ER1, Adzick NS4, Biko DM1.
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias.
CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure. Most are monogenic diseases. The prenatal diagnosis is challenging; the findings are first seen during routine ultrasound.