title: Sclerosing bone dysplasias: genetic and radioclinical features.
abstract: Although knowledge of basic genetics in the field of sclerosing bone dysplasias is progressing, the radiologist still plays a pivotal role in the diagnosis of this relatively poorly understood group of disorders. Based on a target site approach, these anomalies are classified into three groups. Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Schönberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve disease); (b) dysplasias of intramembranous bone formation: progressive diaphyseal dysplasia (Camurati-Engelmann disease) and variants, hyperostosis corticalis generalisata (Van Buchem disease) and variants; and (c) mixed sclerosing dysplasias: melorheostosis (Leri disease) and overlap syndromes.
authors.affiliation: Department of Radiology, University Hospital Antwerp, Edegem.
authors.forename: F M
authors.initials: FM
authors.lastname: Vanhoenacker
authors.forename: L H
authors.initials: LH
authors.lastname: De Beuckeleer
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
authors.forename: W
authors.initials: W
authors.lastname: Balemans
authors.forename: G J
authors.initials: GJ
authors.lastname: Tan
authors.forename: S C
authors.initials: SC
authors.lastname: Hill
authors.forename: A M
authors.initials: AM
authors.lastname: De Schepper
mesh_terms: D001848:Bone Diseases, Developmental / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006801:Humans; D011859:Radiography; D012598:Sclerosis