RT Journal Article
SR Electronic
T1 Metaphyseal dysplasia, Spahr type: a mimicker of rickets
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e230257
DO 10.1136/bcr-2019-230257
VO 12
IS 8
A1 Muthuvel Balasubramaniyan
A1 Anupriya Kaur
A1 Anindita Sinha
A1 Nirmal Raj Gopinathan
YR 2019
UL http://casereports.bmj.com/content/12/8/e230257.abstract
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.