Sclerosing bone dysplasias: genetic and radioclinical features.
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.
Vanhoenacker
F M
FM
Department of Radiology, University Hospital Antwerp, Edegem.
De Beuckeleer
L H
LH
Van Hul
W
W
Balemans
W
W
Tan
G J
GJ
Hill
S C
SC
De Schepper
A M
AM
D001848:Bone Diseases, Developmental / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006801:Humans; D011859:Radiography; D012598:Sclerosis