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  • Title: Conradi-Hünermann-Happle syndrome.
    Author: Hartman RD, Molho-Pessach V, Schaffer JV.
    Journal: Dermatol Online J; 2010 Nov 15; 16(11):4. PubMed ID: 21163155.
    Abstract:
    A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.
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