نتایج جستجو برای: osteopoikilosis
تعداد نتایج: 96 فیلتر نتایج به سال:
Background: Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia an...
Melorheostosis is an atypical sclerosing bone dysplasia also known as "candle disease," "melting wax syndrome," or "Leri with incidence rate of less than one in every million. The diagnosis usually made by the radiographic appearance "dripping candle wax" on affected cortex. We describe case a 35-year-old male patient who presented long history different joint swelling, notably small joints rig...
Buschke-Ollendorf syndrome (BOS) is a rare autosomal dominant disorder characterized by localized increases in bone density manifesting as osteopoikilosis or melorheostosis and connective tissue nevi, collagenomas. Manifestations are highly variable. It is caused by loss-of-function mutations in the LEMD3 gene, which codes for an inner nuclear membrane protein that is also known as MAN1. Six di...
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