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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… 
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

Congenital Abnormality
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation
Abstract Metaphyseal chondrodysplasia represents a complex challenge for the orthopaedic surgeon as it potentially affects all… 
2002
2002
The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia.
Jansen's metaphyseal chondrodysplasia (JMC) is an autosomal dominant disorder characterized by short-limbed dwarfism, delayed… 
1999
1999
Folding and Assembly of Type X Collagen Mutants That Cause Metaphyseal Chondrodysplasia-type Schmid
Schmid metaphyseal chondrodysplasia results from mutations within the COOH-terminal globular domain (NC1) of type X collagen, a… 
1981
1981
Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type.
A case of metaphyseal chondrodysplasia Jansen Type is reported. Clinical and radiological features of this case are presented… 
1976
1976
Jansen's metaphyseal dysostosis.
A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. This is the first case in… 
1970
1970
An unusual bone dysplasia: parastremmatic dwarfism.
The term parastremmatic dwarfism is suggested for a bone dysplasia characterized by severe dwarfism, kyphoscoliosis, distortion… 
Review
1969
Review
1969
Metaphyseal dysostosis of Jansen.
IT IS NOW APPARENT that the term metaphyseal dysostosis has been applied to two probably distinct clinical and radiological… 
1965
1965
THE NATURAL HISTORY OF METAPHYSEAL DYSOSTOSIS.
1964
1964
ROENTGEN OBSERVATIONS IN FAMILIAL METAPHYSEAL DYSOSTOSIS.
Metaphyseal dysostosis is a disease with important genetic implications, characterized by selectively disturbed endochondral bone… 
1956
1956
Hereditary metaphyseal dysostosis.
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