A rare case of Conradi-Hunermann-Happle syndrome

摘要

Conradi-Hunermann-Happle Syndrome is a raretype of chondrodysplasia punctata that presents withichthyosis, asymmetry of limbs, short stature, and lessfrequently cataracts, ichthyosiform erythroderma,epiphyseal stippling and craniofacial defects [1,2]. Itis X linked dominant disorder with mutation in thegene emopamil binding protein (EBP) located onshort arm of X chromosome. EBP gene encodes 8-7sterol isomerase which is involved in the cholesterolbiosynthesis [3]. In this report, a case of a 9-yearsoldgirl diagnosed with Conradi-Hunermann-Happlesyndrome with a typical clinical picture is reported.