Advertisement

Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation

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

Abstract

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.

Keywords

Chondrodysplasia Metaphyseal irregularity COL10A1 mutations 

Notes

Contributions

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

None.

References

  1. 1.
    Lachman RS, Rimoin DL, Spranger J. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol. 1988;18:93–102.CrossRefPubMedGoogle Scholar
  2. 2.
    Bateman JF, Wilson R, Freddi S, Lamandé SR, Savarirayan R. Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Hum Mutat. 2005;25:525–34.CrossRefPubMedGoogle Scholar
  3. 3.
    Higuchi S, Takagi M, Shimomura S, Nishimura G, Hasegawa Y. A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A. Clin Pediatr Endocrinol. 2016;25:107–10.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Gokhale S, Mehta S. Schmid type metaphyseal chondrodysplasia. Indian Pediatr. 2005;42:1252.PubMedGoogle Scholar
  5. 5.
    Savarirayan R, Cormier-Daire V, Lachman RS, Rimoin DL. Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type. Pediatr Radiol. 2000;30:460–3.CrossRefPubMedGoogle Scholar
  6. 6.
    Mäkitie O, Susic M, Ward L, Barclay C, Glorieux FH, Cole WG. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients. Am J Med Genet. 2005;137A:241–8.CrossRefPubMedGoogle Scholar
  7. 7.
    Kirsch T, von der Mark K. Isolation of human type X collagen and immunolocalization in fetal human cartilage. Eur J Biochem. 1991;196:575–80.CrossRefPubMedGoogle Scholar
  8. 8.
    Engel J, Prockop D. The zipper-like folding of collagen helices and the effects of mutations that disrupt that zipper. Annu Rev Biophys Chem. 1991;20:137–52.CrossRefGoogle Scholar
  9. 9.
    Zhu Y, Li L, Zhou L, et al. A novel mutation leading to elongation of the deduced α1 (X) chain results in metaphyseal chondrodysplasia type Schmid. Clin Chim Acta. 2011;412:1266–9.CrossRefPubMedGoogle Scholar

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

Personalised recommendations