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Severe presentation of non-ossifying fibroma of the femur in osteoglophonic dysplasia
  1. Abilash Kumar1,2,
  2. Yee Tong Chong3,
  3. Kamal Jamil3 and
  4. Emilia Rusli4
  1. 1Orthopaedics, Hospital Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
  2. 2Orthopaedics, Universiti Putra Malaysia Fakulti Perubatan dan Sains Kesihatan, Serdang, Selangor, Malaysia
  3. 3Department of Orthopaedics & Traumatology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
  4. 4Department of Radiology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia
  1. Correspondence to Dr Kamal Jamil; drkortho{at}gmail.com

Abstract

Osteoglophonic dwarfism, also known as osteoglophonic dysplasia (OD), is an uncommon skeletal dysplasia with an autosomal dominant mode of inheritance, which equally affects boys and girls. OD is saliently featured by craniosynostosis, dysmorphic facial features, impacted mandibular teeth, rhizomelic limb shortening and non-ossifying fibromas habitually at the metaphyseal regions, which usually disappear after skeletal maturity. The long bones in OD are portrayed by this distinguishable ‘hollowed-out’ appearance with metaphyseal cystic defects that have a natural history of spontaneous resolution. We report a case of a rare and unusual presentation of OD in a 23-year-old woman whom has been diagnosed with OD during her early childhood. She presented with a progressively enlarging right thigh swelling associated with pain for the past 1 year. Her right femur plain radiograph revealed diffuse lysis of the whole femur with cortical thinning. MRI revealed multiple bilateral femur benign cystic lesion synonymous with a severe spectrum of OD. She was started on a trial of oral bisphosphonates, which led to a significant improvement in pain.

  • paediatric oncology
  • orthopaedics
  • congenital disorders

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Footnotes

  • Contributors AK, YTC and MKAJ generally provided care for the patient throughout. YTC and AK prepared the manuscript draft with vital radiological input and support from RE. MKAJ analysed and edited the manuscript. All authors approved the final manuscript. We would also like to express our deepest gratitude to our patient, Sor Wei Kheng for being such a gem in allowing and assisting us in writing this paper.

  • 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.

  • Competing interests None declared.

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

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