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Skeletal Dysplasia: Clinical and Radiological Aspects
Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree
Article first published online: 6 DEC 1998
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S
Copyright © 1996 Wiley-Liss, Inc.
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
König, R., Dukiet, C., Dörries, A., Zabel, B. and Fuchs, S. (1996), Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree. Am. J. Med. Genet., 63: 68–73. doi: 10.1002/(SICI)1096-8628(19960503)63:1<68::AID-AJMG14>3.0.CO;2-S
Publication History
- Issue published online: 6 DEC 1998
- Article first published online: 6 DEC 1998
- Manuscript Received: 2 JAN 1996
- Abstract
- References
- Cited By
Keywords:
- osteopathia striata;
- cranial sklerosis;
- macrocephaly
Abstract
Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis it represents a separate entity, which is not limited to the bones but may affect other structures, leading to abnormal face, cleft palate, deafness, heart defects, and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. Ten families, including our own, clearly demonstrate autosomal dominant inheritance with female preponderance and great inter- and intrafamilial variability. © 1996 Wiley-Liss, Inc.