Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation

  • Manisha Goyal
  • Ashok Gupta
  • Anita Choudhary
  • Anu Bhandari
Clinical Brief


Schmid type metaphyseal chondrodysplasia (SMCD) is a rare skeletal dysplasia, characterized by short stature, short limbs, bowing of the legs, and radiographic features of metaphyseal irregularities with fraying and splaying, more severe at the knee. It is caused by mutations of the COL10A1 gene. The authors present an Indian patient with a novel COL10A1 gene mutation.


Chondrodysplasia Metaphyseal irregularity COL10A1 mutations 



MG and AC reviewed and diagnosed the case. AB helped in making the diagnosis. MG wrote the manuscript. AG critically reviewed the article and will act as guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest



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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Manisha Goyal
    • 1
  • Ashok Gupta
    • 1
  • Anita Choudhary
    • 2
  • Anu Bhandari
    • 3
  1. 1.Centre for Rare Disease, Department of PediatricsSMS Medical College and Associated HospitalJaipurIndia
  2. 2.Department of PediatricsSMS Medical College and Associated HospitalJaipurIndia
  3. 3.Department of RadiologySMS Medical College and Associated HospitalJaipurIndia

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