We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjogren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts. (C) 1995 Wiley-Liss, Inc.
Pierquin, G. ; Peeters, Patrick ; Roels, F. ; Vamos, E. ; Brucher, Jean-Marie ; et. al. Severe Smith-lemli-opitz Syndrome With Prolonged Survival and Lipid Abnormalities. In: American Journal of Medical Genetics, Vol. 56, no. 3, p. 276-280 (1995)