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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1991 Jul;28(7):485–489. doi: 10.1136/jmg.28.7.485

Genochondromatosis.

M Le Merrer 1, P Fressinger 1, P Maroteaux 1
PMCID: PMC1016962  PMID: 1895320

Abstract

We report a new disorder that we have called genochondromatosis. Four patients from the same family with the characteristic localisation of chondromatosis (clavicle, upper end of humerus, and lower end of femur) were investigated. The favourable course, the dominant transmission, and previous publication of similar cases confirm the uniqueness of this new entity. The chondrodysplasias with disorganised development of cartilage are far from being completely understood. Recently, several disorders within this group have been well defined, including metachondromatosis and spondyloenchondroplasia, but there still remain numerous clinical subgroups that are very difficult to classify.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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