Le Merrer M, Maroteaux P
U12 Unité de Recherches INSERM sur les Handicaps Génétiques de l'Enfant, Paris, France.
Eur J Pediatr. 1991 Oct;150(12):847-51. doi: 10.1007/BF01955006.
Among children with recessive metaphyseal dysplasia, cartilage hair hypoplasia, as described by McKusick is often recognized only during the 2nd year or later. The early radiological changes observed in six children with cartilage hair hypoplasia demonstrate the misleading aspect of this chondrodysplasia: micromelia, massive appearance of the long bones and round inferior femoral epiphyses, without distinct metaphyseal involvement. Early diagnosis permits the organisation of clinical, immunological and orthopaedic follow up and allows for correct genetic counselling.
在患有隐性干骺端发育不良的儿童中，麦库西克所描述的软骨毛发发育不全通常要到第二年或更晚才被发现。在六名患有软骨毛发发育不全的儿童中观察到的早期放射学变化表明了这种软骨发育异常的误导性方面：四肢短小、长骨粗大外观以及股骨下端骨骺圆形，而干骺端无明显受累。早期诊断有助于组织临床、免疫学和骨科随访，并能提供正确的遗传咨询。
