Little information is available on the prevalence, geographic distribution and mutation spectrum of genetic skeletal disorders (GSDs) in China. This study systematically reviewed GSDs as defined in "Nosology and Classification of genetic skeletal disorders (2010 version)" using Chinese biomedical literature published over the past 34 years from 1978 to 2012. In total, 16,099 GSDs have been repo...

BOS: Buschke-Ollendorff syndrome INTRODUCTION First reported in 1928, Buschke-Ollendorff syndrome (BOS) is an autosomal dominant genodermatosis with high penetrance and variable expressivity. It is characterized by skin-colored or yellow smooth papules, plaques, and nodules up to 2 cm consisting of elastomas or collagenomas, known as dermatofibrosis lenticularis disseminata. This syndrome also ...

this latter presentation following sclerotomal distribution. Long bones of the lower limbs are most frequently affected. The disease rarely affects the spine, skull and the face. The diagnosis is essentially clinical and radiological. Laboratory tests results are usually normal and histological findings are nonspecific. The classical radiological presentation is that of sclerosis in only one si...

A 9-year-old girl was referred to our clinic for evaluation of a spherical sclerotic bone lesion in the distal metaphysis of the left tibia (Figure 1A). The lesion was accidentally found after a routine radiograph for a minor left ankle injury she sustained a week earlier. Physical examination revealed multiple, asymptomatic, symmetrically located skin lesions on either side of the lower back a...

was osteosclerosis, affecting especially cortical bone and more marked in the three fingers most severely affected by soft-tissue atrophic changes. Osteosclerosis is an unusual but recognized change in ischaemic digits, and arteriograms would have been informative in our case, but were refused by the patient. Localized scleroderma (morphea) may occasionally be associated with certain sclerotic ...