Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation

Indian J Pediatr. 2019 Feb;86(2):183-185. doi: 10.1007/s12098-018-2791-0. Epub 2018 Sep 12.

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: COL10A1 mutations; Chondrodysplasia; Metaphyseal irregularity.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging
  • Cesarean Section
  • Child, Preschool
  • Collagen Type X / genetics*
  • Coxa Vara / diagnostic imaging
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics
  • Exons / genetics
  • Female
  • Genu Varum / diagnostic imaging
  • Humans
  • India
  • Mutation*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / physiopathology
  • Radiography

Substances

  • Collagen Type X

Supplementary concepts

  • Chondrodysplasia Calcificans Metaphysealis
  • Metaphyseal chondrodysplasia Schmid type
  • Weismann Netter syndrome