Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems

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Gunal I., Taymaz A., KARATOSUN V. A., Toylu A., Degirmenci B.

Clinical Orthopaedics and Related Research, no.436, pp.270-276, 2005 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: Issue: 436
• Publication Date: 2005
• Doi Number: 10.1097/01.blo.0000162996.94098.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. © 2005 Lippincott Williams & Wilkins.