LD24.4
Spondylometaphyseal dysplasias
Displasias espondilometafisárias
CategoryDefinition
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterised by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.
Index Terms
Spondylometaphyseal dysplasiasSpondylometaphyseal dysplasia, Kozlowski typeSpondylometaphyseal dysplasia, 'corner fracture' typeSpondylometaphyseal dysplasia, Schmidt typeSpondylometaphyseal dysplasia with severe genu valgumSpondylometaphyseal dysplasia - cone-rod dystrophyAxial spondylometaphyseal dysplasiaSpondylometaphyseal dysplasia, Golden typeSpondylometaphyseal dysplasia with combined immunodeficiencyRoifman-Melamed syndromeSpondylometaphyseal dysplasia - bowed forearms - facial dysmorphismSpondylometaphyseal dysplasia, A4 typeMicromelic dwarfism, Fryns type