Severe Smith‐Lemli‐Opitz syndrome with prolonged survival and lipid abnormalities

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Abstract
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‐Sjögren 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. © Wiley‐Liss, Inc.