Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems.
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.
Gunal
I
I
Department of Orthopedics, Dokuz Eylül University, Izmir, Turkey. izge.gunal@deu.edu.tr
Taymaz
A
A
Karatosun
V
V
Toylu
A
A
Degirmenci
B
B
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology*; D005260:Female; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics / Q000473:pathology*; D008875:Middle Aged; D016649:Primary Ovarian Insufficiency / Q000235:genetics / Q000473:pathology*; D012598:Sclerosis / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D013577:Syndrome