PT  - JOURNAL ARTICLE
AU  - Muthuvel Balasubramaniyan
AU  - Anupriya Kaur
AU  - Anindita Sinha
AU  - Nirmal Raj Gopinathan
TI  - Metaphyseal dysplasia, Spahr type: a mimicker of rickets
AID  - 10.1136/bcr-2019-230257
DP  - 2019 Aug 01
TA  - BMJ Case Reports
PG  - e230257
VI  - 12
IP  - 8
4099  - http://casereports.bmj.com/content/12/8/e230257.short
4100  - http://casereports.bmj.com/content/12/8/e230257.full
SO  - BMJ Case Reports2019 Aug 01; 12
AB  - 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.