Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems.
case_report · Level V
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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.
Medical subject headings
- Bone Diseases, Developmental
- Bone and Bones
- Ichthyosis Vulgaris
- Primary Ovarian Insufficiency
- Sclerosis