What is syndrome resembling osteogenesis imperfecta (SROI)?

Updated: Jun 19, 2020
  • Author: Horacio B Plotkin, MD, FAAP; Chief Editor: Jatinder Bhatia, MBBS, FAAP  more...
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Answer

Syndrome resembling osteogenesis imperfecta (SROI) with mineralization defect is clinically indistinguishable from moderate to severe osteogenesis imperfecta. [11] (This rare form, in fact, has been termed type VI osteogenesis imperfecta.) It can only be diagnosed with bone biopsy, in which a mineralization defect that affects the bone matrix and sparing growth cartilage are evident. These patients have neither dentinogenesis imperfecta nor Wormian bones. Despite the histologic mineralization defect, no radiologic signs of growth plate involvement are seen.

The pattern of inheritance is not clear, but a case of 2 siblings from healthy consanguineous parents has been described, suggesting gonadal mosaicism or a somatic recessive trait. No mutations of COL1A1 and COL1A2 genes have been found in these patients, and collagen structure appears to be normal. This form shares several characteristics with fibrogenesis imperfecta ossium. A mild, rare form of this condition may occur (3 patients in a series of 128 bone biopsies performed to assess bone fragility). These patients do not appear to respond well to treatment with intravenous bisphosphonates.


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