Abstract
Abstract—We report a girl with dominant X-linked chondrodysplasia punctata (CDPX2) with severe deformities of the bones and joints, along with skin lesions which started as ichthyosiform erythroderma. Later on, a striking pattern of linear ichthyosis developed. CDPX2, also known as Happle syndrome, is due to mutations in the delta(8)-delta(7) sterol isomerase emopamil-binding protein (EBP), which converts cholesterol-8(9)-3-β-ol in lanosterol.
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