Abstract
A case of Conradi's disease (chondrodystrophia calcificans congenita, congenital stippled epiphyses) is reported in which the evolution of the disease was followed for 15 years. At birth the patient showed stippling of the epiphyses, abnormalities of the vertebral bodies, shortening of the right femur, bilateral congenital cataracts, saddle-nose deformity, and blotchy erythema of the skin and scalp. By the age of 6 months most of the epiphyseal stippling had disappeared and the vertebral column abnormalities had begun to produce kyphosis. By 15 years of age she had severe kyphoscoliosis, marked shortening of the right leg, short stature, cicatricial alopecia, coarse and lusterless hair, follicular atrophoderma, saddle-nose deformity, cataracts, irregular dentition, and low normal intelligence. Despite the early disappearance of epiphyseal stippling, recognition of the associated abnormalities may allow diagnosis of Conradi's disease in later life.
Published Version
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