SKELETAL DYSPLASIAS

Abstract

The aim of this study is through a literature review to describe the concept, diagnosis and management of skeletal dysplasias. Skeletal dysplasias are a heterogeneous group of disorders that affect bone and cartilage and are characterized by abnormal skeletal shape, growth, and integrity. These disorders can be inherited in a multitude of genetic patterns – autosomal dominant, autosomal recessive, somatic mosaic, metabolism imprinting errors, X-linked, and teratogenic exposure. Most are monogenic diseases. Prenatal diagnosis is challenging as the first findings are seen during routine ultrasound. Most skeletal dysplasias have an identifiable pattern of skeletal changes comprised of unique and even pathognomonic findings. The use of multigene panels, using state-of-the-art sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management during pregnancy and/or neonatal period.