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Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric case presentation with associated mandibular swelling and a review of the literature
  1. Shima Chundoo1,
  2. David M McGoldrick2,
  3. Rhodri Williams1,3 and
  4. Kevin McMillan1,3
  1. 1Oral and Maxillofacial Surgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK
  2. 2Oral and Maxillofacial Surgery, Queen Elizabeth Hospital Birmingham, Birmingham, UK
  3. 3Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
  1. Correspondence to Dr Shima Chundoo; shima.chundoo1{at}


Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infection including diagnosis journey as well as management in 7-year-old patient. Literature review completed for OMD cases. Case report investigative methods include genetic testing, CT facial bones and MRI scan, orthopantogram and bone biopsies. An initial suspected diagnosis of DSS with chronic osteomyelitis was made. However, following genetic testing, a diagnosis of OMD was confirmed. Our patient underwent a surgical debulking procedure and antibiotic treatment. Less than 10 patients with this condition have been reported within the international literature. There is a wide range of presentation. OMD, DSS and osteomyelitis are all within a similar spectrum of bone conditions. Our understanding, regarding OMD, remains limited and, hence, further research is required to elucidate a thorough clinical picture.

  • Genetics
  • Haematology (incl blood transfusion)
  • Paediatrics
  • Oral and maxillofacial surgery

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  • Contributors SC wrote the initial draft of case report. Subsequent review and revisions by DMM, KM and RW.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.