Molecular and Behavior Study in children with Spondylo-epi-metaphyseal Dysplasia

Abstract

Skeletal dysplasias are a heterogeneous group of more than 450 disorders frequently associated with generalized disorders of the skeleton, orthopedic complications and varying degrees of dwarfism or short stature (Bonafe et al., 2015). SEMDs represent a subgroup of skeletal dysplasias which are conditions caused by impaired development of the osseous skeleton of spine and long bones epiphysis and metaphysis (Borochowitz et al., 2003).

Classification of SEMDs is nosologicaly difficult. By reviewing the Online Mendelian Inheritance in Man (OMIM) and London Medical Databases (LMD), SEMD group comprises more than 80 distinct entities with differing modes of inheritance AD, AR or XL, all defined by the combination of vertebral and or epiphyseal and or metaphyseal abnormalities (OMIM 2018; LMD 2016).

The main presenting symptom of SEMD patients is usually disproportionate short stature and skeletal deformities. The diagnosis of the type is based either on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients (Cormier-Daire, 2008).