Sclerosing bone dysplasias: genetic and radioclinical features (original) (raw)
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.
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Authors and Affiliations
- Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, , , , , , BE
F. M. Vanhoenacker, L. H. De Beuckeleer & A. M. De Schepper - Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium, , , , , , BE
W. Van Hul & W. Balemans - Department of Radiology, Dr. Janssen Ziekenhuis, Urkerweg 1, NL-8303 Emmeloord BA, The Netherlands, , , , , , NL
G. J. Tan - Warren G. Magnuson Clinical Center, Department of Diagnostic Radiology, National Institutes of Health, Bethesda, Maryland 20892–1182, USA, , , , , , US
S. C. Hill
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- F. M. Vanhoenacker
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Received: 11 January 2000; Revised: 5 April 2000; Accepted: 6 April 2000
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Vanhoenacker, F., De Beuckeleer, L., Van Hul, W. et al. Sclerosing bone dysplasias: genetic and radioclinical features.Eur Radiol 10, 1423–1433 (2000). https://doi.org/10.1007/s003300000495
- Issue Date: August 2000
- DOI: https://doi.org/10.1007/s003300000495