Le Merrer M, Fressinger P, Maroteaux P
U12 Unité de Recherches INSERM sur les Handicaps Genétiques de l'Enfant, Hôpital des Enfants-Malades, Paris, France.
J Med Genet. 1991 Jul;28(7):485-9. doi: 10.1136/jmg.28.7.485.
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.
我们报告了一种我们称之为软骨瘤病的新病症。对来自同一家庭的四名患有软骨瘤病特征性定位(锁骨、肱骨上端和股骨下端)的患者进行了调查。病情发展良好、显性遗传以及此前类似病例的发表证实了这一新病种的独特性。软骨发育紊乱的软骨发育异常尚未完全被了解。最近,这一类别中的几种病症已得到明确界定,包括间质性软骨瘤病和脊椎骨骺发育异常,但仍有许多临床亚组很难进行分类。