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Rare disease
CASE REPORT
Metaphyseal dysplasia, Spahr type: a mimicker of rickets
  1. Muthuvel Balasubramaniyan1,
  2. Anupriya Kaur1,
  3. Anindita Sinha2 and
  4. Nirmal Raj Gopinathan3
  1. 1 Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  2. 2 Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  3. 3 Orthopaedics, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Anupriya Kaur, anukaur.genetics{at}gmail.com

Abstract

Metaphyseal dysplasias are a heterogeneous group of skeletal dysplasias characterised by metaphyseal irregularities. Due to the presence of metaphyseal changes accompanied with bowing deformity of lower limb, they are likely to be mistaken for rickets. We present a case of a 7-year-old boy, finally diagnosed with metaphyseal dysplasia, Spahr type (MDST) (OMIM # 250400) after his exome sequencing revealed novel variations in the MMP13 gene (OMIM * 600108). This is a rare skeletal dysplasia with only a few cases reported in literature. A compilation of the presentation of the reported cases is given to help the reader understand this rare disorder. To the best of our knowledge, this case of MDST is the first to be reported from India.

  • orthopaedics
  • genetics

https://doi.org/10.1136/bcr-2019-230257

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    Footnotes

    • Contributors AK: substantial contributions to the conception or design of the work; acquisition, analysis or interpretation of data for the work. MB: drafting the work. AS: substantial contribution in radiograph analysis and final approval of the version to be published. NRG: substantial contribution in acquisition of data, radiograph analysis and final approval of the version to be published. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • 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.

    • Patient consent for publication Parental/guardian consent obtained.