Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia

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.