Case reports - Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, no.436, pp.270-276, 2005 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: Issue: 436
- Publication Date: 2005
- Doi Number: 10.1097/01.blo.00001629996.94098.f9
- Journal Name: CLINICAL ORTHOPAEDICS AND RELATED RESEARCH
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.270-276
- Dokuz Eylül University Affiliated: Yes
Abstract
The clinical, radiologic, histopathologic, and genetic features of a sclerosing bone dysplasia found in three members of a family are described. The bone disorder affected all metaphyseal-diaphyseal regions of all long bones, the skull, and three metacarpals. All affected members also had ichthyosis vulgaris and premature ovarian failure. These features have not been reported before, indicating a new syndrome.