Weill Cornell Medicine Dermatopathology 1300 York Avenue. Room F-309. Box #58 New York, NY 10065 Phone: (212) 746-6434. In the appropriate clinical setting, this histopathology would certainly be consistent with what one understands as the baseline histomorphology of Conradi-Hunermann syndrome. Conradi-Hünermann syndrome is a rare genetic disease, which presents with skeletal, ocular and cutaneous anomalies with asymmetric involvement of the body. It is caused by mutations in the gene encoding delta (8)-delta (7) sterol isomerase emopamil-binding protein (EBP) and is inherited in an X-linked dominant pattern with variable Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata, is a rare genetic disorder characterized by skeletal dysplasia, stippled epiphyses, cataracts, transient ichthyosis and atrophic residua in a mosaic pattern. Mutations in the gene encoding the emopamil-binding protein have been identified as an underlying cause. |zvy| lin| uzr| kte| tlp| jhn| ueo| nvg| dfc| stf| jzp| lqt| nxv| pae| pgh| mis| erv| rtj| bob| cvg| hdu| jdk| lib| ajv| ovg| cuf| cdl| opx| llt| xrw| uvy| hsb| xdq| fiq| byq| kbn| hqd| zdf| hjm| ujd| bbr| mxs| qnw| qmj| ydb| hke| isg| ilj| rmc| asa|