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Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
BMJ Case Rep. 2019 Aug 13; 12(8)BC

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.

Authors+Show Affiliations

Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.Radiodiagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India.Orthopaedics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

31413057

Citation

Balasubramaniyan, Muthuvel, et al. "Metaphyseal Dysplasia, Spahr Type: a Mimicker of Rickets." BMJ Case Reports, vol. 12, no. 8, 2019.
Balasubramaniyan M, Kaur A, Sinha A, et al. Metaphyseal dysplasia, Spahr type: a mimicker of rickets. BMJ Case Rep. 2019;12(8).
Balasubramaniyan, M., Kaur, A., Sinha, A., & Gopinathan, N. R. (2019). Metaphyseal dysplasia, Spahr type: a mimicker of rickets. BMJ Case Reports, 12(8). https://doi.org/10.1136/bcr-2019-230257
Balasubramaniyan M, et al. Metaphyseal Dysplasia, Spahr Type: a Mimicker of Rickets. BMJ Case Rep. 2019 Aug 13;12(8) PubMed PMID: 31413057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Metaphyseal dysplasia, Spahr type: a mimicker of rickets. AU - Balasubramaniyan,Muthuvel, AU - Kaur,Anupriya, AU - Sinha,Anindita, AU - Gopinathan,Nirmal Raj, Y1 - 2019/08/13/ PY - 2019/8/16/entrez PY - 2019/8/16/pubmed PY - 2020/1/25/medline KW - genetics KW - orthopaedics JF - BMJ case reports JO - BMJ Case Rep VL - 12 IS - 8 N2 - 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. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/31413057/Metaphyseal_dysplasia_Spahr_type:_a_mimicker_of_rickets_ L2 - https://casereports.bmj.com/lookup/pmidlookup?view=long&pmid=31413057 DB - PRIME DP - Unbound Medicine ER -