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.
Keywords: fetal imaging; low-dose fetal CT; skeletal dysplasia.