Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia

J Pediatr Endocrinol Metab. 2008 Mar;21(3):209-11. doi: 10.1515/jpem.2008.21.3.209.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Body Height*
  • Cartilage / abnormalities*
  • Cartilage Diseases / complications*
  • Cartilage Diseases / diagnostic imaging
  • Cartilage Diseases / pathology
  • Child
  • DNA Mutational Analysis
  • Endoribonucleases / genetics
  • Female
  • Growth Disorders / diagnostic imaging
  • Growth Disorders / etiology*
  • Growth Disorders / genetics
  • Hair / abnormalities*
  • Humans
  • Mutation / genetics
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / etiology*
  • Osteochondrodysplasias / genetics
  • Phenotype
  • Radiography
  • Ribonucleoproteins / genetics

Substances

  • Ribonucleoproteins
  • Endoribonucleases
  • mitochondrial RNA-processing endoribonuclease