SEVERE SMITH-LEMLI-OPITZ SYNDROME WITH PROLONGED SURVIVAL AND LIPID ABNORMALITIES

We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebel lar atrophy, and severe hypocholesterolemia. Death occurred at age 7 y ears. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjogren syndrome, it is concluded t hat this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with except ionally long survival. This diagnosis was confirmed through assay of 7 -dehydrocholesterol in cultured fibroblasts. (C) 1995 Wiley-Liss, Inc.