Open AccessMetaphyseal dysplasia, Spahr type: a mimicker of rickets
Author(s) -
Balasubramaniyan Muthuvel,
Anupriya Kaur,
Anindita Sinha,
Nirmal Raj Gopinathan
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-230257
Subject(s) - medicine , dysplasia , rickets , exome sequencing , rare disease , presentation (obstetrics) , hip dysplasia , pathology , surgery , disease , radiography , phenotype , genetics , gene , vitamin d and neurology , biology
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.