Metaphyseal chondrodysplasia

Known as: Metaphyseal dysostosis 
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Jansen metaphyseal chondrodysplasia (JMC) is caused by a constitutively activating mutation of the parathyroid hormone (PTH)/PTH… (More)
  • table 1
  • figure 1
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2002
Review
2002
the previously described features of SDS and added emphasis to the chondrodysplastic skeletal anomalies, including metaphyseal… (More)
Is this relevant?
2002
2002
Jansen's metaphyseal chondrodysplasia (JMC) is an autosomal dominant disorder characterized by short-limbed dwarfism, delayed… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
1999
Review
1999
Metaphyseal chondrodysplasia (MCD) is a heterogeneous group of diseases characterised by defective enchondral ossification… (More)
Is this relevant?
Highly Cited
1997
Highly Cited
1997
Parathyroid hormone-related peptide (PTHrP) appears to play a major role in skeletal development. Targeted disruption of the… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1993
Highly Cited
1993
The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification… (More)
Is this relevant?
1987
1987
The fourteenth reported patient with Murk Jansen's metaphyseal chondrodysplasia is presented, with a remarkable followup from… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 5
  • figure 6
Is this relevant?
1981
1981
The first case of metaphyseal chondrodysplasia with marked cupping of the metaphyses and cone epiphyses combined with complete… (More)
  • figure I
  • figure 2
Is this relevant?
1981
1981
A case of metaphyseal chondrodysplasia Jansen Type is reported. Clinical and radiological features of this case are presented… (More)
Is this relevant?
1976
1976
Two pairs of brothers suffered respiratory distress in the newborn period because their ribs were abnormally short. The… (More)
  • figure 1
  • figure 3
  • figure 4
  • figure 5
Is this relevant?