Osteopoikilosis - a case report

@inproceedings{Rusu2015OsteopoikilosisA,
  title={Osteopoikilosis - a case report},
  author={Alexandra Rusu and Anca Cardoneanu and Alexandra Burlui and Elena Rezus},
  year={2015}
}
Osteopoikilosis (OPK) is a very rare and primarily benign autosomal dominant disorder of unknown etiology. Genetic studies showed heterozygous mutations of the LEMD3 gene. It is characterised by the occurrence of hyperostotic spots throughout the skeleton, with the most frequent localizations in the epiphyses and metaphyses of long bones, as well as in the carpal and tarsal bones. The clinical features of osteopoikilosis are poorly represented; consequently the condition is usually diagnosed… CONTINUE READING

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