[Generalized skeletal dysplasias (author's transl)].
Skeletal Dysplasias are an important cause of short stature. Their overall frequency is unknown; their individual number exceeds 80. Prognostic and genetic counseling depend on a correct diagnosis of the specific bone dysplasia. Specific radiographic diagnoses are also needed for the meaningful interpretation of forthcoming histological, ultrastructural and biochemical studies which will help to elucidate the pathogenesis of skeletal dysplasias as prerequisite for a causal therapy.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000209:etiology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011379:Prognosis; D011859:Radiography
Generalisierte Skeletdysplasien. Nosologie, Häufigkeit und praktische Bedeutung