PT  - JOURNAL ARTICLE
AU  - M Le Merrer
AU  - P Fressinger
AU  - P Maroteaux
TI  - Genochondromatosis.
AID  - 10.1136/jmg.28.7.485
DP  - 1991 Jul 01
TA  - Journal of Medical Genetics
PG  - 485--489
VI  - 28
IP  - 7
4099  - http://jmg.bmj.com/content/28/7/485.short
4100  - http://jmg.bmj.com/content/28/7/485.full
SO  - J Med Genet1991 Jul 01; 28
AB  - 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.