Metaphyseal dysplasia, Spahr type: a mimicker of rickets

BMJ Case Rep. 2019 Aug 13;12(8):e230257. doi: 10.1136/bcr-2019-230257.

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.

Keywords: genetics; orthopaedics.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diagnosis, Differential
  • Humans
  • Male
  • Matrix Metalloproteinase 13 / genetics
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Rickets / diagnosis

Substances

  • Matrix Metalloproteinase 13

Supplementary concepts

  • Metaphyseal chondrodysplasia Spahr type