ESPE Abstracts

Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-link...