Skeletal dysplasias
Keywords:
Skeletal dysplasia, Bone dysplasia, Diagnosis, ManagementAbstract
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. The global incidence is about 2.4 cases per 10,000 births, and the incidence of lethal dysplasias varies between 0.95 and 1.5 per 10,000 births. Regarding mortality, 44% died in the perinatal period. There is no preponderance as to race or sex (except in X-linked recessive diseases, where males are the most affected). 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. 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. Prenatal diagnosis is challenging; findings are first seen during routine ultrasound. Most skeletal dysplasias have an identifiable pattern of skeletal changes comprised of unique and even pathognomonic findings.
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