The epiphyseal dysplasias.
The epiphyseal dysplasias are a group of heterogeneous disorders characterized by defective or excessive bone formation in the secondary ossification centers of the tubular bones and sometimes the vertebrae. Most of them are caused by the defective action of mutant genes. Their pathogenesis is unknown. Differentiation of the various entities in this group is essential for the proper management and genetic counseling of the patients.
D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000473:pathology; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D004838:Epiphyses / Q000473:pathology; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000473:pathology; D007231:Infant, Newborn; D011859:Radiography; D013639:Tarsal Bones / Q000473:pathology