Spondylo-epi-metaphyseal dysplasia
V Cormier-Daire - Best Practice & Research Clinical Rheumatology, 2008 - Elsevier
The spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of disorders
comprising more than 20 distinct entities with differing modes of inheritance, all defined by
the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting
symptom of SEMD patients is usually disproportionate short stature. The diagnosis is either
based 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 …
comprising more than 20 distinct entities with differing modes of inheritance, all defined by
the combination of vertebral, epiphyseal and metaphyseal abnormalities. The presenting
symptom of SEMD patients is usually disproportionate short stature. The diagnosis is either
based 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 …